ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.93G>C (p.Thr31=)

gnomAD frequency: 0.00003  dbSNP: rs765719980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001440320 SCV001643226 likely benign Hypertrophic cardiomyopathy 2024-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377720 SCV002687118 likely benign Cardiovascular phenotype 2020-11-09 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.
Color Diagnostics, LLC DBA Color Health RCV003532985 SCV004359917 likely benign Cardiomyopathy 2022-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001440320 SCV004827474 likely benign Hypertrophic cardiomyopathy 2024-04-16 criteria provided, single submitter clinical testing

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