ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.4776C>G (p.Leu1592=) (rs1143658)

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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 RCV000618921 SCV000739881 likely benign Cardiovascular phenotype 2013-08-07 criteria provided, single submitter clinical testing
Invitae RCV000233709 SCV000288006 benign Hypertrophic cardiomyopathy 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216238 SCV000270570 likely benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Leu1592Leu in exon 38 of MYOM1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.3% (166/66238) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs1143658).

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