ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.601-380C>T (rs397516475)

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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,Partners HealthCare Personalized Medicine RCV000036605 SCV000060260 uncertain significance not specified 2010-09-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The 571-8C>T va riant has not been reported in the literature. We have identified it in one HCM proband in our laboratory. It is located in the 3' splice region but does not affect the highly conserved -1 and -2 positions. However, positions -3 and -5 t o -12 are part of the splicing consensus sequence and variants involving these p ositions sometimes affect splicing. Therefore, the clinical significance of thi s variant cannot be determined at this time.
Illumina Clinical Services Laboratory,Illumina RCV000313864 SCV000353336 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350090 SCV000353337 uncertain significance Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401951 SCV000353338 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310708 SCV000353339 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000829202 SCV000970918 likely benign not provided 2018-06-13 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.

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