ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1952G>A (p.Arg651Gln) (rs184721031)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629152 SCV000750068 likely benign Hypertrophic cardiomyopathy 2017-12-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219012 SCV000270559 likely benign not specified 2015-09-09 criteria provided, single submitter clinical testing p.Arg651Gln in exon 14 of MYOM1: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, >10 mammals have a glutamine (Gln) at this position despite high nearby am ino acid conservation. It has been identified in 0.13% (15/11558) of Latino chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g/; dbSNP rs184721031).

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