ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.233+6T>C (rs397516449)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036560 SCV000060215 uncertain significance not specified 2013-12-26 criteria provided, single submitter clinical testing The 203+6T>C variant in TNNT2 has been previously identified by our laboratory i n 1 individual with early-onset DCM and this individual's unaffected parent, but has not been reported in the literature in any other families with DCM or in la rge population studies. This variant is located in the 5' splice region. Computa tional tools do not strongly suggest an impact to splicing. However, this inform ation is not predictive enough to rule out pathogenicity. In summary, additional studies are needed to fully assess the clinical significance of this variant.
Illumina Clinical Services Laboratory,Illumina RCV000359283 SCV000353360 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394598 SCV000353361 uncertain significance Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300837 SCV000353362 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355627 SCV000353363 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing

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