ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.4648+7A>G (rs555598943)

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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 RCV000220915 SCV000270568 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing c.4648+7A>G in intron 34 of MYOM1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 7/10040 Latino chromosomes by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org; dbSNP rs555598943).

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