ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51739+14C>A (rs727505018)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156442 SCV000206161 likely benign not specified 2014-05-01 criteria provided, single submitter clinical testing 44035+14C>A in intron 221 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence.
GeneDx RCV000156442 SCV000236653 benign not specified 2014-12-19 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000156442 SCV001158193 benign not specified 2019-03-01 criteria provided, single submitter clinical testing

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