ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3924C>T (p.Asp1308=)

gnomAD frequency: 0.00003  dbSNP: rs776501112
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592156 SCV000701899 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Invitae RCV000592156 SCV001128320 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835860 SCV002090656 likely benign Usher syndrome type 1 2020-10-05 no assertion criteria provided clinical testing

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