ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) (rs188376296)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904190 SCV001048697 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004341 SCV001163268 likely pathogenic Usher syndrome type 1 criteria provided, single submitter clinical testing
Natera, Inc. RCV001004341 SCV001453314 likely benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000904190 SCV001797697 uncertain significance not provided no assertion criteria provided clinical testing

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