ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.613A>C (p.Lys205Gln) (rs727505331)

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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 RCV000156880 SCV000206601 uncertain significance not specified 2014-11-03 criteria provided, single submitter clinical testing The p.Lys205Gln variant in TNNI3 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein. In summary, the clinical significance of the p.Lys205Gln va riant is uncertain.

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