ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96310+11T>C (rs397517764)

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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 RCV000040839 SCV000064530 likely benign not specified 2012-04-25 criteria provided, single submitter clinical testing 88606+11T>C in intron 295 TTN: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. 88606 +11T>C in intron 295 TTN (allele frequency = n/a)
GeneDx RCV000040839 SCV000723769 likely benign not specified 2017-10-12 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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