ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2656A>G (p.Ser886Gly) (rs199900004)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461463 SCV000550859 likely benign Hypertrophic cardiomyopathy 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216849 SCV000270564 likely benign not specified 2015-05-26 criteria provided, single submitter clinical testing p.Ser886Gly in exon 18 of MYOM1: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 4 mammals (alpaca, Bactrian camel, cape golden mole and platypus) have a g lycine (Gly) at this position despite high nearby amino acid conservation. It h as been identified in 0.1% (59/66740) of European chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199900004).

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