ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11140A>G (p.Ile3714Val)

dbSNP: rs397517833
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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 RCV000041120 SCV000064811 uncertain significance not specified 2012-05-01 criteria provided, single submitter clinical testing The Ile3543Val variant (TTN) has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses are limited or unavaila ble for this variant. Additional information is needed to fully assess the clini cal significance of the Ile3543Val variant.

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