ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2064G>A (p.Thr688=) (rs374462999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467357 SCV000561236 likely benign Hypertrophic cardiomyopathy 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214462 SCV000270561 likely benign not specified 2015-04-14 criteria provided, single submitter clinical testing p.Thr688Thr in exon 15 of MYOM1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 6/9734 African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs374462999).

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