ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3682C>T (p.Leu1228=)

gnomAD frequency: 0.00001  dbSNP: rs560995739
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158493 SCV000208428 benign not specified 2014-09-19 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.
Ambry Genetics RCV000617631 SCV000736513 likely benign Cardiovascular phenotype 2016-02-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000629159 SCV000750075 likely benign Hypertrophic cardiomyopathy 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000778007 SCV000914116 likely benign Cardiomyopathy 2018-05-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000778007 SCV003838750 likely benign Cardiomyopathy 2021-10-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000158493 SCV001919535 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701537 SCV001928183 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701537 SCV001954272 likely benign not provided no assertion criteria provided clinical testing

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