Submissions for variant NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=)

gnomAD frequency: 0.00146  dbSNP: rs147605089

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000884903	SCV001028309	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000884903	SCV001785079	likely benign	not provided	2021-06-22	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258027	SCV002531563	likely benign	Xeroderma pigmentosum	2020-12-01	criteria provided, single submitter	curation
Ambry Genetics	RCV002390865	SCV002702979	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.
Fulgent Genetics, Fulgent Genetics	RCV002507564	SCV002812582	likely benign	Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive	2022-03-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000884903	SCV005209652	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004541799	SCV004788615	likely benign	ERCC2-related disorder	2019-02-18	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).