Submissions for variant NM_021629.4(GNB4):c.917-12dup

dbSNP: rs764075662

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001506584	SCV001711509	likely benign	Charcot-Marie-Tooth disease dominant intermediate F	2023-06-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002449339	SCV002683259	benign	Inborn genetic diseases	2021-10-27	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV003326581	SCV004034030	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	GNB4: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003956121	SCV004767854	likely benign	GNB4-related disorder	2019-07-12	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).