ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.1131C>T (p.Phe377=)

gnomAD frequency: 0.00001  dbSNP: rs764683976
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478518 SCV001682789 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298839 SCV003996037 likely benign Cardiovascular phenotype 2023-05-01 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 RCV004007141 SCV004844795 likely benign Hypertrophic cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001729919 SCV001978746 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729919 SCV001980007 benign not specified no assertion criteria provided clinical testing

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