ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1455G>C (p.Arg485=) (rs193006519)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216894 SCV000269342 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg485Arg in exon 10 of MYOM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.8% (32/3976) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (; dbSNP rs193006519).
Invitae RCV000234565 SCV000287983 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619284 SCV000739835 benign Cardiovascular phenotype 2013-09-18 criteria provided, single submitter clinical testing

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