ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4884T>C (p.Asn1628=)

gnomAD frequency: 0.00001  dbSNP: rs777745599
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
Invitae RCV000932128 SCV001077808 likely benign not provided 2023-07-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273550 SCV001456687 uncertain significance Usher syndrome type 1 2020-03-10 no assertion criteria provided clinical testing

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