ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.352C>A (p.Arg118=)

gnomAD frequency: 0.00001  dbSNP: rs1159252460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191770 SCV001359669 likely benign Cardiomyopathy 2020-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559201 SCV003492170 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-03-12 criteria provided, single submitter clinical testing

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