Submissions for variant NM_000400.4(ERCC2):c.873G>A (p.Gly291=)

gnomAD frequency: 0.00008  dbSNP: rs552090174

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Sema4, Sema4	RCV002257202	SCV002531610	likely benign	Xeroderma pigmentosum	2021-11-07	criteria provided, single submitter	curation
Ambry Genetics	RCV002443277	SCV002682019	likely benign	Inborn genetic diseases	2022-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003718464	SCV004512513	likely benign	not provided	2024-01-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534001	SCV004742478	likely benign	ERCC2-related disorder	2019-09-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).