Adding a single variant to Curate

To add one or several variants, use manual entry in Curate. Follow the instructions below.

Adding a single variant to Curate

How to add a variant in Curate

1

Open Curate Variants.

2

In the navigation panel, select the Add new button ( symbol).

3

In the Add new variant dialog, select the variant type:

• SNV: Single nucleotide variant or indel variant

• CNV: Deletion or duplication

4

Enter variant details.

Confirm the human genome reference (GRCh37 or GRCh38) in the navigation panel. The genome build must match the variant coordinates you enter in Position, Position start, and Position end.

SNV variant details:

Field name	Expected input	Example
Chromosome	1 - 22, X, Y, M	X
Position	Integer	123000
REF	A, T, G, C, or a string of these letters	G
ALT	A, T, G, C, or a string of these letters	GACT

CNV variant details:

Field name	Expected input	Example
Chromosome	1 - 22, X, Y, M	14
Position start	Integer	123000
Position end	Integer. Must be greater than Position start.	124000
REF	A, T, G, C, or a string of these letters	G
Type	DEL, DUP	DEL

5

Select Add.

Result:

• Variant is added to Curate.

• The Curate Variant page opens, where you can assign pathogenicity, add curated interpretation, select a disease, classify the variant using ACMG criteria, and perform additional actions as needed.

Alternative ways to add variants to Curate

Unsure if manual variant entry in Curate is the right option?

• Upload a CSV file to efficiently handle a large set of variants. Learn more

• Export a variant directly from a case in Analyze. Learn more