ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3038C>T (p.Ala1013Val) (rs557671408)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472405 SCV000561251 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000614746 SCV000731554 benign not specified 2017-03-09 criteria provided, single submitter clinical testing This variant is not expect to have clinical significance because it has been ide ntified in 2% (654/29828) of South Asian chromosomes including 12 homozygotes b y the Genome Aggregate Database (gnomAD: http://gnomad.broadinstitute.org/; dbsn p ID rs557671408).
Ambry Genetics RCV000617417 SCV000739828 uncertain significance Cardiovascular phenotype 2013-01-18 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient or conflicting evidence

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