ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.68-3C>T (rs142456469)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941635 SCV001087528 benign not provided 2020-11-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333129 SCV001525622 uncertain significance Deafness, autosomal recessive 12 2018-09-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000941635 SCV001823419 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30828794, 25963016, 20844544)
Natera, Inc. RCV001276796 SCV001463345 benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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