ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.652C>T (p.Leu218=)

gnomAD frequency: 0.00004  dbSNP: rs760269526
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178049 SCV001342377 likely benign Cardiomyopathy 2019-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002555483 SCV003502241 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003373006 SCV004097474 likely benign Cardiovascular phenotype 2023-08-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004006440 SCV004844821 likely benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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