ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.300C>T (p.Pro100=)

gnomAD frequency: 0.00003  dbSNP: rs141322728
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182639 SCV001348152 likely benign Cardiomyopathy 2019-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000952047 SCV001777829 likely benign not provided 2020-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066304 SCV002442932 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2022-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434316 SCV002753758 likely benign Cardiovascular phenotype 2020-01-08 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003396559 SCV004122617 likely benign not specified 2023-10-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004353 SCV004844851 likely benign Hypertrophic cardiomyopathy 2023-10-02 criteria provided, single submitter clinical testing

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