Submissions for variant NM_002471.4(MYH6):c.4980C>T (p.Asp1660=)

gnomAD frequency: 0.07807  dbSNP: rs382872

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037524	SCV000061182	benign	not specified	2011-09-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037524	SCV000308987	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253927	SCV000317540	benign	Cardiovascular phenotype	2015-06-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001513923	SCV001721629	benign	Hypertrophic cardiomyopathy 14	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001610328	SCV001833978	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037524	SCV001925605	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037524	SCV001954280	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037524	SCV001973891	benign	not specified		no assertion criteria provided	clinical testing