Submissions for variant NM_002471.4(MYH6):c.3979-8del

dbSNP: rs193922652

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030306	SCV000052973	likely benign	Cardiomyopathy	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205051	SCV000262099	benign	Hypertrophic cardiomyopathy 14	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000154759	SCV000308973	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000396023	SCV000385618	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000299696	SCV000385619	uncertain significance	Atrial septal defect	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000354591	SCV000385620	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000154759	SCV000565675	benign	not specified	2017-08-08	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	RCV000030306	SCV000900796	benign	Cardiomyopathy	2016-04-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354174	SCV002623144	likely benign	Cardiovascular phenotype	2015-09-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154759	SCV000204439	not provided	not specified	2014-05-09	no assertion provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000154759	SCV001800699	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000154759	SCV001951894	benign	not specified		no assertion criteria provided	clinical testing
Institute of Human Genetics, University of Wuerzburg	RCV004595891	SCV005088684	not provided	Hypertrophic cardiomyopathy 2		no assertion provided	clinical testing