ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.711-13_711-11del (rs397516480)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036611 SCV000060266 uncertain significance not specified 2011-10-14 criteria provided, single submitter clinical testing The 690-13_690-11delCTT variant has not been previously reported nor previously identified by our laboratory. This variant is located in the 3' splice region b ut does not affect the highly conserved -1 and -2 positions. Positions -3 and - 5 to -12 are part of the splicing consensus sequence and variants involving thes e positions can sometimes affect splicing.
GeneDx RCV000036611 SCV000565618 likely benign not specified 2016-02-25 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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