ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1340-14del (rs554705715)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218030 SCV000270556 likely benign not specified 2015-03-16 criteria provided, single submitter clinical testing c.1340-14delT in intron 10 of MYOM1: This variant is not expected to have clinic al significance because it has been identified in 0.4% (118/29586) of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs554705715).

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