Submissions for variant NM_002471.4(MYH6):c.4359+8A>C

gnomAD frequency: 0.00031  dbSNP: rs188675676

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218263	SCV000269282	benign	not specified	2015-07-02	criteria provided, single submitter	clinical testing	c.4359+8A>C in intron 30 of MYH6: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 1.2% (100/8648) of East Asian chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs18 8675676).
Invitae	RCV001086231	SCV000557879	likely benign	Hypertrophic cardiomyopathy 14	2024-01-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000839533	SCV000981434	likely benign	not provided	2018-03-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171179	SCV001333871	benign	Cardiomyopathy	2018-04-16	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000218263	SCV001744830	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000218263	SCV001921921	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000839533	SCV001955077	likely benign	not provided		no assertion criteria provided	clinical testing