Submissions for variant NM_002471.4(MYH6):c.4137G>A (p.Thr1379=)

gnomAD frequency: 0.00022  dbSNP: rs372158844

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217654	SCV000270450	likely benign	not specified	2016-02-19	criteria provided, single submitter	clinical testing	p.Thr1379Thr in exon 29 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 13/66716 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs372158844).
GeneDx	RCV001529436	SCV000724548	likely benign	not provided	2019-12-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619504	SCV000737227	likely benign	Cardiovascular phenotype	2017-02-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV001455876	SCV001659643	likely benign	Hypertrophic cardiomyopathy 14	2024-01-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529436	SCV004129067	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYH6: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003937831	SCV004748828	likely benign	MYH6-related condition	2019-05-01	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529436	SCV001742899	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000217654	SCV001919569	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529436	SCV001975700	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529436	SCV001977995	likely benign	not provided		no assertion criteria provided	clinical testing