ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2507-22TGT[2] (rs147985558)

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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 RCV000219600 SCV000269354 benign not specified 2015-03-19 criteria provided, single submitter clinical testing c.2507-16_2507-14delTGT in intron 17 of MYOM1: This variant is not expected to h ave clinical significance because it has been identified in 5.7% (554/9720) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi; dbSNP rs147985558).

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