ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.739G>A (p.Glu247Lys) (rs139422575)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622206 SCV000739839 likely benign Cardiovascular phenotype 2013-02-18 criteria provided, single submitter clinical testing
Invitae RCV000462933 SCV000561218 benign Hypertrophic cardiomyopathy 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217373 SCV000270573 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing p.Glu247Lys in exon 4 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (48/6100) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs139422575).

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