ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8316C>T (p.Asn2772=)

gnomAD frequency: 0.00004  dbSNP: rs368145346
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 RCV000928302 SCV001073911 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276051 SCV001461879 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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