ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19015T>C (p.Tyr6339His)

dbSNP: rs397517490
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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, Mass General Brigham Personalized Medicine RCV000039922 SCV000063613 uncertain significance not specified 2012-03-14 criteria provided, single submitter clinical testing The Tyr5095His variant (TTN) has not been reported in the literature nor previously identified by our laboratory. Conservation and computational analyses are limited or unavailable for this variant. Additional information is needed to fully assess the clinical significance of this variant.

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