ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16179T>A (p.Asp5393Glu)

gnomAD frequency: 0.00001  dbSNP: rs768837104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730255 SCV001978228 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001730255 SCV001979815 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730255 SCV001980264 uncertain significance not provided no assertion criteria provided clinical testing

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