ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.3539A>G (p.Asp1180Gly) (rs188319622)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458238 SCV000561226 benign Hypertrophic cardiomyopathy 2016-11-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216508 SCV000270567 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing p.Asp1180Gly in exon 23 of MYOM1: This variant is not expected to have clinical significance because it has been identified in 0.5% (51/9800) of African chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs188319622).

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