ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52592T>C (p.Val17531Ala)

gnomAD frequency: 0.00001  dbSNP: rs764524150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001795632 SCV003824238 uncertain significance not provided 2020-07-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001795632 SCV002034909 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795632 SCV002038482 uncertain significance not provided no assertion criteria provided clinical testing

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