ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.1044G>A (p.Leu348=)

gnomAD frequency: 0.00001  dbSNP: rs1461497941
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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 RCV001523929 SCV001733669 likely benign Cardiomyopathy 2020-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771574 SCV004596821 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-12-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007241 SCV004844804 likely benign Hypertrophic cardiomyopathy 2023-10-30 criteria provided, single submitter clinical testing

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