ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.300C>G (p.Leu100=)

gnomAD frequency: 0.00001  dbSNP: rs772145171
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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 RCV001494743 SCV001699406 likely benign Hypertrophic cardiomyopathy 2023-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439187 SCV002753755 likely benign Cardiovascular phenotype 2020-10-13 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150438 SCV003837691 likely benign Cardiomyopathy 2021-10-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003150438 SCV004359905 likely benign Cardiomyopathy 2021-10-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001494743 SCV004819080 likely benign Hypertrophic cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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