ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) (rs115398922)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732329 SCV000860273 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing
Invitae RCV000732329 SCV001087509 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000732329 SCV001772059 likely benign not provided 2019-09-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273539 SCV001456676 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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