ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5727T>C (p.Thr1909=)

dbSNP: rs756919394
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000370018 SCV000363811 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270779 SCV000363812 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001490330 SCV001694891 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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