ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2394C>T (p.Thr798=)

gnomAD frequency: 0.00009  dbSNP: rs373269394
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082085 SCV000114024 uncertain significance not provided 2013-08-16 criteria provided, single submitter clinical testing
Invitae RCV000082085 SCV001043116 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000082085 SCV001778736 likely benign not provided 2019-12-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275941 SCV001461621 uncertain significance Usher syndrome type 1 2020-01-24 no assertion criteria provided clinical testing

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