ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6870G>A (p.Thr2290=)

gnomAD frequency: 0.00003  dbSNP: rs778092747
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000982532 SCV001130548 likely benign not provided 2023-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827113 SCV002093233 likely benign Usher syndrome type 1 2020-09-25 no assertion criteria provided clinical testing

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