ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.295-14C>T

gnomAD frequency: 0.00006  dbSNP: rs747477576
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Total submissions: 10
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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 RCV000217752 SCV000270931 likely benign not specified 2016-03-31 criteria provided, single submitter clinical testing c.265-14C>T in intron 8 of TNNT2: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing. It has been identified in 10/11576 of Latino chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs747477576).
Color Diagnostics, LLC DBA Color Health RCV001188355 SCV001355403 likely benign Cardiomyopathy 2019-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001712095 SCV001939267 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002057152 SCV002409915 benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002057152 SCV002796705 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2021-09-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000217752 SCV004038010 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445702 SCV004173793 benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445703 SCV004173794 benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445701 SCV004173795 benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001188355 SCV004821419 likely benign Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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