ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.240C>T (p.Asn80=)

gnomAD frequency: 0.00001  dbSNP: rs1178754602
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773709 SCV000907408 likely benign Cardiomyopathy 2018-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001413585 SCV001615704 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-08-28 criteria provided, single submitter clinical testing
GeneDx RCV001683654 SCV001902396 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307408 SCV003993359 likely benign Cardiovascular phenotype 2023-06-09 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 RCV004000030 SCV004844857 likely benign Hypertrophic cardiomyopathy 2023-03-09 criteria provided, single submitter clinical testing

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