1 of 36

Knowledgebase Updates

Zoidberg 73 (October 21th 2024)

CGD: 2024-06-27

ClinGen_genes_regions: 2024-10-08

DECIPHER_HI: 3

EMEDGENE: 2024-10-08

HGNC: 2024-10-08

Gnomad_constraint: 2.1

HPO: 2024-08-13

OMIM: 2024-10-08

Orphanet: 4.5

UniProt: 2024-10-02

UniProt_domains: 2024_04

Zoidberg 72 (September 10th 2024)

CGD: 2024-06-27

ClinGen_HI: 2024-09-03

DECIPHER_HI: 3

EMEDGENE: 2024-09-03

HGNC: 2024-08-23

Gnomad_constraint: 2.1

HPO: 2024-08-13

OMIM: 2024-09-03

Uniprot: 2024-07-24

Variant Databases (September 22 2024)

Clinvar: 2024-09-02

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 71 (July 24th 2024)

CGD: 2023-12-01

ClinGen_HI: 2024-07-11

DECIPHER_HI version: 3

EMEDGENE: 2024-07-11

HGNC: 2024-07-09

HPO: 2024-07-01

OMIM: 2024-07-11

Orphanet version: 2.8

Uniprot: 2024-05-29

Variant Databases (July 21 2024)

Clinvar: 2024-07-08

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 70 (June 3rd 2024)

CGD: 2023-12-01

ClinGen_HI: 2024-05-30

DECIPHER_HI version: 3

EMEDGENE: 2024-05-30

HGNC: 2024-05-24

HPO: 2024-04-24

OMIM: 2024-05-30

Orphanet version: 2.8

Uniprot: 2024-05-29

Zoidberg 69 (April 19th 2024)

CGD: 2023-12-01

ClinGen_HI: 2024-04-16

DECIPHER_HI version: 3

EMEDGENE: 2024-04-16

HGNC: 2024-04-08

HPO: 2024-04-16

OMIM: 2024-04-16

Orphanet version: 2.8

Uniprot: 2024-03-27

Variant Databases (April 9th 2024)

Following the recent updates in ClinVar, some discordance could be observed between aggregate classification and submissions. Indeed, some of the submissions are "flagged" and thus do not contribute to the aggregate classification or review status for the variant. This could be particularly significant when applying ACMG classification rules while taking submissions into account.

Clinvar: 2024-03-31

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 68 (March 18th 2024)

CGD: 2023-12-01

ClinGen_HI: 2024-02-28

DECIPHER_HI version: 3

EMEDGENE: 2024-02-28

HGNC: 2024-02-02

HPO: 2024-02-28

OMIM: 2024-02-28

Orphanet version: 2.8

Uniprot: 2024-01-24

Variant Databases (February 5th 2024)

Clinvar: 2024-01-27

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 67 (January 28th 2024)

CGD: 2023-12-01

ClinGen_HI: 2024-01-16

DECIPHER_HI version: 3

EMEDGENE: 2024-01-16

HGNC: 2024-01-16

HPO: 2024-01-16

OMIM: 2024-01-16

Orphanet version: 2.8

Uniprot: 2023-11-08

Variant Databases (January 5th 2024)

Clinvar: 2023-12-30

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 66 (December 24th 2023)

CGD: 2023-12-01

ClinGen_HI: 2023-12-14

DECIPHER_HI version: 3

EMEDGENE: 2023-12-14

HGNC: 2023-12-12

HPO: 2023-12-14

OMIM: 2023-12-14

Orphanet version: 2.8

Uniprot: 2023-11-08

Variant Databases (December 3rd 2023)

Clinvar: 2023-11-26

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 65 (November 21th 2023)

CGD: 2023-05-04

ClinGen_HI: 2023-11-16

DECIPHER_HI version: 3

EMEDGENE: 2023-11-16

HGNC: 2023-11-16

HPO: 2023-11-16

OMIM: 2023-11-16

Orphanet version: 2.8

Uniprot: 2023-11-08

Variant Databases (November 5th 2023)

Clinvar: 2023-10-28

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 64 (October 24th 2023)

CGD: 2023-05-04

ClinGen_HI: 2023-10-11

DECIPHER_HI version: 3

EMEDGENE: 2023-10-11

HGNC: 2023-10-11

HPO: 2023-10-11

OMIM: 2023-10-11

Orphanet version: 2.8

Uniprot: 2023-09-13

Variant Databases (October 8th 2023)

Clinvar: 2023-09-23

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 63 (September 18th 2023)

CGD: 2023-05-04

ClinGen_HI: 2023-09-13

DECIPHER_HI version: 3

EMEDGENE: 2023-09-13

HGNC: 2023-09-13

HPO: 2023-09-13

OMIM: 2023-09-13

Orphanet version: 2.8

Uniprot: 2023-06-28

Variant Databases (September 5th 2023)

Clinvar: 2023-08-26

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 62 (August 23th 2023)

CGD: 2023-05-04

ClinGen_HI: 2023-08-21

DECIPHER_HI version: 3

EMEDGENE: 2023-08-21

HGNC: 2023-08-21

HPO: 2023-08-21

OMIM: 2023-08-21

Orphanet version: 2.8

Uniprot: 2023-06-28

Zoidberg 61 (August 16th 2023)

CGD: 2023-05-04

ClinGen_HI: 2023-07-24

DECIPHER_HI version: 3

EMEDGENE: 2023-07-24

HGNC: 2023-07-24

HPO: 2023-07-24

OMIM: 2023-07-24

Orphanet version: 2.8

Uniprot: 2023-06-28

Variant Databases (August 6th 2023)

Clinvar: 2023-07-30

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 60 (July 30th 2023)

CGD: 2023-05-04

ClinGen_HI: 2023-07-24

DECIPHER_HI version: 3

EMEDGENE: 2023-07-24

HGNC: 2023-07-24

HPO: 2023-07-24

OMIM: 2023-07-24

Orphanet version: 2.8

Uniprot: 2023-06-28

Variant Databases (July 2nd 2023)

Clinvar: 2023-06-17

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 59 (June 18th 2023)

CGD: 2023-05-04

ClinGen_HI: 2023-06-14

DECIPHER_HI version: 3

EMEDGENE: 2023-06-14

HGNC: 2023-06-14

HPO: 2023-06-14

OMIM: 2023-06-14

Orphanet version: 2.8

Uniprot: 2023-05-03

Variant Databases (June 4th 2023)

Clinvar: 2023-05-27

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 58 (May 21th 2023)

CGD: 2023-05-04

ClinGen_HI: 2023-05-17

DECIPHER_HI version: 3

EMEDGENE: 2023-05-17

HGNC: 2023-05-17

HPO: 2023-05-17

OMIM: 2023-05-16

Orphanet version: 2.8

Uniprot: 2023-05-03

Variant Databases (May 7th 2023)

Clinvar: 2023-04-30

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 57 (April 16th 2023)

CGD: 2022-10-05

ClinGen_HI: 2023-04-10

DECIPHER_HI version: 3

EMEDGENE: 2023-04-10

HGNC: 2023-04-10

HPO: 2023-04-10

OMIM: 2023-04-10

Orphanet version: 2.8

Uniprot: 2023-03-01

Variant Databases (April 2nd 2023)

Clinvar: 2023-03-26

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 56 (March 19th 2023)

CGD: 2022-10-05

ClinGen_HI: 2023-03-12

DECIPHER_HI version: 3

EMEDGENE: 2023-03-12

HGNC: 2023-03-12

HPO: 2023-03-12

OMIM: 2023-03-12

Orphanet version: 2.8

Uniprot: 2023-03-01

Variant Databases (March 11th 2023)

Clinvar: 2023-03-11

Clinvar_SV: 2023-01-19

ClinGen Regions: 30_Jan_2023

GnomAD STR: 2022-04-24

MITOMAP Known Variants: 2021-05-26

dbSNP: 155

Zoidberg 55 (February 19th 2023)

CGD: 2022-10-05

ClinGen_HI: 2023-02-14

DECIPHER_HI version: 3

EMEDGENE: 2023-02-14

HGNC: 2023-02-14

HPO: 2023-02-14

OMIM: 2023-02-14

Orphanet version: 2.8

Uniprot: 2022-12-14

Zoidberg 54 (January 16th 2023)

CGD: 2022-10-05

ClinGen_HI: 2022-12-29

DECIPHER_HI version: 3

EMEDGENE: 2022-12-29

HGNC: 2022-12-29

HPO: 2022-12-29

OMIM: 2022-12-29

Orphanet version: 2.8

Uniprot: 2022-12-14