ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.-197GAGCGGC[5]

dbSNP: rs527578984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394220 SCV000363514 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300068 SCV000363515 uncertain significance CDH23-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357293 SCV000363516 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001731576 SCV001982679 benign not provided 2021-10-18 criteria provided, single submitter clinical testing

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