ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs557671408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472405 SCV000561251 benign Hypertrophic cardiomyopathy 2024-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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 There is insufficient or conflicting evidence for classification of this alteration.

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