ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.72G>C (p.Ala24=)

dbSNP: rs778572289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189568 SCV001356879 likely benign Cardiomyopathy 2019-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069075 SCV002426039 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-04-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010367 SCV004844871 likely benign Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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