ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.387G>A (p.Ala129=)

gnomAD frequency: 0.00089  dbSNP: rs201919232
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000917114 SCV001062382 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000917114 SCV001767665 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275413 SCV001460563 uncertain significance Usher syndrome type 1 2020-01-24 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000917114 SCV001921174 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000917114 SCV001970319 likely benign not provided no assertion criteria provided clinical testing

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