ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1978C>G (p.Pro660Ala) (rs201104206)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233900 SCV000287989 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000611061 SCV000711649 likely benign not specified 2016-05-12 criteria provided, single submitter clinical testing p.Pro600Ala in exon14 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (21/6612) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs201104206).
Blueprint Genetics RCV000143932 SCV000188810 uncertain significance Primary dilated cardiomyopathy 2013-09-27 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157378 SCV000207116 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-03-14 no assertion criteria provided clinical testing

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