ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63269A>G (p.Tyr21090Cys)

gnomAD frequency: 0.00001  dbSNP: rs377480514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001725898 SCV001963248 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725898 SCV001973600 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001725898 SCV001979723 uncertain significance not provided no assertion criteria provided clinical testing

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