Submissions for variant NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)

gnomAD frequency: 0.00068  dbSNP: rs34517175

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860939	SCV001001125	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001129001	SCV001288497	uncertain significance	Xeroderma pigmentosum, group D	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Sema4, Sema4	RCV002257422	SCV002531584	benign	Xeroderma pigmentosum	2020-07-28	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000860939	SCV004139735	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ERCC2: PP3, BS1, BS2
ITMI	RCV000120772	SCV000084936	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV004542873	SCV004764259	benign	ERCC2-related disorder	2020-05-22	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).