Submissions for variant NM_002471.4(MYH6):c.1083G>T (p.Gly361=)

gnomAD frequency: 0.00092  dbSNP: rs138928022

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154768	SCV000204448	likely benign	not specified	2015-04-07	criteria provided, single submitter	clinical testing	p.Gly361Gly in exon 12 of MYH6: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (25/10404) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs138928022).
Ambry Genetics	RCV000250037	SCV000319134	likely benign	Cardiovascular phenotype	2017-12-11	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.
GeneDx	RCV001533529	SCV000535042	likely benign	not provided	2020-12-14	criteria provided, single submitter	clinical testing
Invitae	RCV000647082	SCV000768869	benign	Hypertrophic cardiomyopathy 14	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001533529	SCV002049991	likely benign	not provided	2021-07-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154768	SCV002548236	benign	not specified	2022-05-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965153	SCV004784647	likely benign	MYH6-related condition	2022-03-02	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).
Clinical Genetics, Academic Medical Center	RCV001533529	SCV001917952	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001533529	SCV001927937	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001533529	SCV001973821	likely benign	not provided		no assertion criteria provided	clinical testing