ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45310C>T (p.Leu15104Phe)

gnomAD frequency: 0.00001  dbSNP: rs370782950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184143 SCV000236760 likely benign not specified 2012-10-09 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.
Clinical Genetics, Academic Medical Center RCV001699226 SCV001923234 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699226 SCV001972980 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699226 SCV001979628 uncertain significance not provided no assertion criteria provided clinical testing

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