ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.3548G>A (p.Arg1183Gln) (rs147050513)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556679 SCV000623844 likely benign Hypertrophic cardiomyopathy 2017-06-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213509 SCV000272173 uncertain significance not specified 2015-10-30 criteria provided, single submitter clinical testing The p.Arg1183Gln variant in MYOM1 has not been previously reported in individual s with cardiomyopathy, but has been identified in 27/66568 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147050513). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg1183Gln variant is uncertain.

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