ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2419C>T (p.Leu807=)

gnomAD frequency: 0.00005  dbSNP: rs748582000
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 RCV000979563 SCV001127508 likely benign not provided 2023-06-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827094 SCV002085628 likely benign Usher syndrome type 1 2021-08-26 no assertion criteria provided clinical testing

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