ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.120G>C (p.Pro40=)

dbSNP: rs766934253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002120057 SCV002402505 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 RCV004005389 SCV004840214 likely benign Hypertrophic cardiomyopathy 2023-11-20 criteria provided, single submitter clinical testing

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