Submissions for variant NM_000400.4(ERCC2):c.1278G>A (p.Pro426=)

gnomAD frequency: 0.00023  dbSNP: rs148469762

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002207344	SCV002369130	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256903	SCV002531549	likely benign	Xeroderma pigmentosum	2021-01-31	criteria provided, single submitter	curation
Ambry Genetics	RCV002443137	SCV002683144	likely benign	Inborn genetic diseases	2022-02-13	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.
CeGaT Center for Human Genetics Tuebingen	RCV002207344	SCV004139745	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ERCC2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004543741	SCV004762090	likely benign	ERCC2-related disorder	2019-10-28	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).