ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) (rs79705488)

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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 RCV000176688 SCV000228380 likely benign not specified 2018-04-04 criteria provided, single submitter clinical testing
Invitae RCV000965141 SCV001112401 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000965141 SCV001776212 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271857 SCV001453329 likely benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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