Submissions for variant NM_000257.4(MYH7):c.3337-4dup

dbSNP: rs45504498

Total submissions: 29

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel	RCV000758032	SCV000564469	benign	Cardiomyopathy	2016-12-15	reviewed by expert panel	curation	The filtering allele frequency of the c.3337-3dupC variant in the MYH7 gene is 0.23% (146/54400) of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035849	SCV000059500	benign	not specified	2006-10-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000035849	SCV000228299	benign	not specified	2014-10-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000035849	SCV000248115	benign	not specified	2014-01-30	criteria provided, single submitter	clinical testing
Invitae	RCV000198751	SCV000252661	benign	Hypertrophic cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202937	SCV000257658	likely benign	Hypertrophic cardiomyopathy 1	2015-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000035849	SCV000303222	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251461	SCV000317889	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000335651	SCV000386052	likely benign	MYH7-related skeletal myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000305277	SCV000386054	likely benign	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000198751	SCV000386055	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV003320066	SCV000386056	likely benign	Myosin storage myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000308973	SCV000386057	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251461	SCV000735051	benign	Cardiovascular phenotype	2015-03-27	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000035849	SCV000864349	benign	not specified	2017-05-12	criteria provided, single submitter	clinical testing	BA1,BP6; This alteration has an allele frequency that is greater than 5% healthy populations (ExAC/gnomAD), and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000758032	SCV000900845	benign	Cardiomyopathy	2016-03-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000758032	SCV000902533	benign	Cardiomyopathy	2018-03-09	criteria provided, single submitter	clinical testing
Mendelics	RCV000202937	SCV001139412	likely benign	Hypertrophic cardiomyopathy 1	2019-05-28	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000035849	SCV001433298	benign	not specified	2019-06-27	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262908	SCV001440956	benign	Dilated cardiomyopathy 1S	2019-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001357390	SCV001936284	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV000198751	SCV003803025	benign	Hypertrophic cardiomyopathy	2022-10-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001357390	SCV004562841	benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000143924	SCV000188801	likely benign	Ventricular fibrillation, paroxysmal familial, type 1	2013-10-17	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001357390	SCV001552854	uncertain significance	not provided		no assertion criteria provided	clinical testing	Allele frequency is common in at least one population database (frequency: 6.007% in gnomAD_Genomes) based on the frequency threshold of 0.637% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001357390	SCV001800175	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000035849	SCV001932538	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035849	SCV001957962	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035849	SCV001974482	benign	not specified		no assertion criteria provided	clinical testing