ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.66G>C (p.Val22=) (rs1662316)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620097 SCV000739818 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215158 SCV000269376 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Val22Val in exon 2 of MYOM1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 12.0% (504/4212) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs1662316).

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