ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1090G>A (p.Gly364Ser)

gnomAD frequency: 0.00001  dbSNP: rs767750411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000976460 SCV001124363 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000976460 SCV001918183 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000976460 SCV001964792 uncertain significance not provided no assertion criteria provided clinical testing

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