Submissions for variant NM_000257.4(MYH7):c.2349C>T (p.Arg783=)

gnomAD frequency: 0.00036  dbSNP: rs139882431

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035785	SCV000059436	likely benign	not specified	2016-08-09	criteria provided, single submitter	clinical testing	p.Arg783Arg in exon 21 of MYH7: 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 38/66720 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org;dbSNP rs139882431).
PreventionGenetics, part of Exact Sciences	RCV000035785	SCV000303217	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094216	SCV000386161	likely benign	Hypertrophic cardiomyopathy 1	2019-03-25	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000264496	SCV000386162	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360132	SCV000386164	likely benign	Dilated cardiomyopathy 1S	2019-03-25	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000270322	SCV000386165	likely benign	MYH7-related skeletal myopathy	2019-03-25	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV003320054	SCV000386166	likely benign	Myosin storage myopathy	2019-03-25	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000359211	SCV000557946	likely benign	Hypertrophic cardiomyopathy	2025-01-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035785	SCV000696341	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000622074	SCV000736799	likely benign	Cardiovascular phenotype	2017-03-28	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.
CeGaT Center for Human Genetics Tuebingen	RCV000590341	SCV000780472	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	MYH7: BP4, BP7
Color Diagnostics, LLC DBA Color Health	RCV000777761	SCV000913727	likely benign	Cardiomyopathy	2018-05-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000590341	SCV001144677	likely benign	not provided	2019-07-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000590341	SCV001940363	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000777761	SCV002042268	likely benign	Cardiomyopathy	2021-10-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000590341	SCV001927145	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000590341	SCV001976072	likely benign	not provided		no assertion criteria provided	clinical testing