ClinVar Miner

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

gnomAD frequency: 0.00009  dbSNP: rs188376296
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904190 SCV001048697 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV002290979 SCV002583279 uncertain significance Usher syndrome type 1D criteria provided, single submitter clinical testing
Baylor Genetics RCV003473526 SCV004212374 uncertain significance Pituitary adenoma 5, multiple types 2022-04-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004341 SCV001163268 likely pathogenic Usher syndrome type 1 flagged submission 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000904190 SCV001970191 uncertain significance not provided no assertion criteria provided clinical testing

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