ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.882C>T (p.Thr294=)

gnomAD frequency: 0.00004  dbSNP: rs45465693
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704463 SCV000530494 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16858239)
Invitae RCV000550418 SCV000646919 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2024-01-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769736 SCV000901158 likely benign Cardiomyopathy 2017-02-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769736 SCV001349554 likely benign Cardiomyopathy 2019-04-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265763 SCV002548104 likely benign not specified 2022-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411374 SCV002676170 likely benign Cardiovascular phenotype 2019-08-08 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.
Genome-Nilou Lab RCV003449071 SCV004180485 likely benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449072 SCV004180487 likely benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449070 SCV004180488 likely benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000769736 SCV004823340 likely benign Cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing

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