ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.64G>C (p.Val22Leu) (rs1791085)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218539 SCV000269374 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Val22Leu in exon 2 of MYOM1: This variant is not expected to have clinical signi ficance because it has been identified in 11.9% (501/4212) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /; dbSNP rs1791085).
Ambry Genetics RCV000622051 SCV000739819 benign Cardiovascular phenotype 2013-01-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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