ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro)

dbSNP: rs397516166
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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, Mass General Brigham Personalized Medicine RCV000035818 SCV000059469 likely pathogenic Hypertrophic cardiomyopathy 2014-04-11 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845298 SCV000987334 likely pathogenic Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing

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