ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.1737dup (p.Tyr580fs) (rs1598726218)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000999611 SCV001156315 uncertain significance Hypertrophic cardiomyopathy 2018-10-15 criteria provided, single submitter research MYOM1 Tyr580Leufs*10 has not been previously reported and is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in HCM proband with no family history of disease. Based on this information we classify this as a variant of 'uncertain significance'.

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