Submissions for variant NM_000400.4(ERCC2):c.687C>T (p.Ala229=)

gnomAD frequency: 0.00234  dbSNP: rs34021577

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000915562	SCV001060774	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000915562	SCV001786075	likely benign	not provided	2021-05-18	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258042	SCV002531607	likely benign	Xeroderma pigmentosum	2021-05-10	criteria provided, single submitter	curation
Ambry Genetics	RCV002363367	SCV002666122	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.
CeGaT Center for Human Genetics Tuebingen	RCV000915562	SCV004139749	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ERCC2: BP4, BP7, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579378	SCV001807009	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000915562	SCV001969596	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533514	SCV004736709	benign	ERCC2-related disorder	2019-06-18	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).