ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.11928G>A (p.Thr3976=)

gnomAD frequency: 0.00003  dbSNP: rs548317101
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Total submissions: 4
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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 RCV001528405 SCV001740103 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699579 SCV001921907 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528405 SCV001955231 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528405 SCV001975594 likely benign not provided no assertion criteria provided clinical testing

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