ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.6G>A (p.Ala2=)

gnomAD frequency: 0.00004  dbSNP: rs397516361
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036311 SCV000059963 likely benign not specified 2009-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000036311 SCV000209153 benign not specified 2014-09-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866578 SCV001007692 likely benign Hypertrophic cardiomyopathy 2024-01-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001192354 SCV001360402 likely benign Cardiomyopathy 2020-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298060 SCV003990497 likely benign Cardiovascular phenotype 2023-05-15 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 RCV000866578 SCV004821904 likely benign Hypertrophic cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing

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