ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.5045dup (p.Lys1683fs) (rs573184538)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629157 SCV000750073 likely benign Hypertrophic cardiomyopathy 2017-09-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214361 SCV000270572 likely benign not specified 2015-12-23 criteria provided, single submitter clinical testing p.Lys1683fs in exon 38 of MYOM1: This variant is predicted to cause a frameshift within the last exon and is predicted to result in a protein where the last few amino acids are replaced by different residues. This variant is not expected to have clinical significance because it has been identified in 0.3% (15/4502) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs573184538).

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