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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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