ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1230C>T (p.Tyr410=)

gnomAD frequency: 0.00061  dbSNP: rs150885220
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168851 SCV000170556 benign not specified 2013-02-20 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 RCV000254444 SCV000319209 likely benign Cardiovascular phenotype 2019-01-28 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.
Invitae RCV000471055 SCV000557981 likely benign Hypertrophic cardiomyopathy 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188101 SCV001355071 benign Cardiomyopathy 2018-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001528926 SCV002063117 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001188101 SCV004821391 benign Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528926 SCV001741507 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000168851 SCV001920119 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528926 SCV001929502 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528926 SCV001955204 likely benign not provided no assertion criteria provided clinical testing

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