Submissions for variant NM_000166.6(GJB1):c.671G>A (p.Arg224His)

gnomAD frequency: 0.00006  dbSNP: rs201697702

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086484	SCV001002537	benign	Charcot-Marie-Tooth Neuropathy X	2025-01-06	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000862092	SCV001143683	benign	not provided	2019-02-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000862092	SCV002504527	likely benign	not provided	2019-07-26	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002363211	SCV002664593	likely benign	Inborn genetic diseases	2020-02-24	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	RCV002507468	SCV002806696	likely benign	Charcot-Marie-Tooth disease X-linked dominant 1	2021-11-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004754584	SCV005349288	likely benign	GJB1-related disorder	2024-08-07	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).