ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.991-13T>C

gnomAD frequency: 0.00002  dbSNP: rs1375741970
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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 RCV001184145 SCV001350062 likely benign Cardiomyopathy 2019-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067945 SCV002418171 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-10-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008435 SCV004831039 likely benign Hypertrophic cardiomyopathy 2023-06-26 criteria provided, single submitter clinical testing

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