ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.455-14A>G

gnomAD frequency: 0.00001  dbSNP: rs902599585
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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 RCV002131309 SCV002455172 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-07-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005472 SCV004842670 likely benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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