ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52751C>T (p.Thr17584Ile)

gnomAD frequency: 0.00001  dbSNP: rs776113556
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001730437 SCV001979671 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730437 SCV001980250 uncertain significance not provided no assertion criteria provided clinical testing

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