ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)

dbSNP: rs200503016
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Total submissions: 5
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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 RCV001530133 SCV001744825 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001530133 SCV001923545 likely pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001530133 SCV001930055 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001530133 SCV001957836 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001530133 SCV001975045 pathogenic not provided no assertion criteria provided clinical testing

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