Submissions for variant NM_021629.4(GNB4):c.186T>C (p.His62=)

gnomAD frequency: 0.00155  dbSNP: rs149798652

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475460	SCV000558975	benign	Charcot-Marie-Tooth disease dominant intermediate F	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001531584	SCV001746785	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	GNB4: BP4, BP7
GeneDx	RCV001531584	SCV001821112	likely benign	not provided	2022-02-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28975462)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000475460	SCV002049809	likely benign	Charcot-Marie-Tooth disease dominant intermediate F	2023-10-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411542	SCV002723491	likely benign	Inborn genetic diseases	2019-07-11	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001531584	SCV005262950	likely benign	not provided		criteria provided, single submitter	not provided