ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.3195C>G (p.Ser1065=) (rs185366609)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229483 SCV000287999 benign Hypertrophic cardiomyopathy 2017-11-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000607643 SCV000711568 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser1065Ser in exon 21 of MYOM1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1.6% (8/492) of Af rican chromosomes from a broad population by the 1000 Genomes Project (http://ww; dbSNP rs185366609).

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