ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1160C>T (p.Thr387Ile) (rs189973743)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471958 SCV000561245 benign not provided 2018-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000602825 SCV000711573 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr387Ile in exon 8 of MYOM1: This variant is not expected to have clinical sign ificance because it has been identified in 1.1% (42/3744) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs189973743).

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