ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.505A>G (p.Arg169Gly) (rs727504267)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154253 SCV000203908 likely pathogenic Hypertrophic cardiomyopathy 2016-02-03 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000223700 SCV000280358 likely pathogenic not provided 2015-02-09 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease

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