ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15775+14C>T (rs151057960)

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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 RCV000152403 SCV000201418 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.12043+14C>T in Intron 50 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/6580 European American chromosomes from a broad popula tion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; db SNP rs151057960).
GeneDx RCV000152403 SCV000528878 likely benign not specified 2017-08-18 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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