ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)

dbSNP: rs748062476
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770509 SCV000901954 uncertain significance Cardiomyopathy 2015-12-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770509 SCV001347701 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410310 SCV001612355 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388391 SCV002699947 likely benign Cardiovascular phenotype 2022-01-30 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 RCV003999944 SCV004844805 likely benign Hypertrophic cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing

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