ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.27C>T (p.Ala9=)

dbSNP: rs1595762043
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185048 SCV001351178 likely benign Cardiomyopathy 2019-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770055 SCV004580723 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-05-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008509 SCV004844876 likely benign Hypertrophic cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706067 SCV005214414 likely benign not provided criteria provided, single submitter not provided

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