ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.258C>G (p.Ala86=)

dbSNP: rs727503508
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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 RCV001484284 SCV001688700 likely benign Hypertrophic cardiomyopathy 2023-12-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001484284 SCV004824147 likely benign Hypertrophic cardiomyopathy 2024-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994145 SCV005519954 likely benign Cardiovascular phenotype 2024-09-08 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.

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