ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.456C>T (p.Gly152=)

gnomAD frequency: 0.00002  dbSNP: rs771310484
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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 RCV001184023 SCV001349894 likely benign Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001472298 SCV001676427 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-10-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001472298 SCV002801262 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-08-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998873 SCV004844837 likely benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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