ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.423G>A (p.Val141=)

gnomAD frequency: 0.00001  dbSNP: rs922191208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538969 SCV000660373 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330988 SCV002629757 likely benign Cardiovascular phenotype 2019-11-13 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 RCV003999522 SCV004844842 likely benign Hypertrophic cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing

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