ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.405C>T (p.Tyr135=)

gnomAD frequency: 0.00002  dbSNP: rs181479041
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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 RCV000459394 SCV000561255 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-12-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184823 SCV001350900 likely benign Cardiomyopathy 2019-03-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002149 SCV004844843 likely benign Hypertrophic cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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