ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.629C>T (p.Thr210Ile) (rs397516476)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036606 SCV000060261 uncertain significance not specified 2012-11-28 criteria provided, single submitter clinical testing The Thr203Ile variant in TNNT2 has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Thr203Ile variant.

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