ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9198+13C>T (rs375384238)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000286697 SCV000363927 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334748 SCV000363928 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000608038 SCV000710991 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing c.9198+13C>T in intron 63 of CDH23: This variant is not expected to have clinica l significance because it is not located within the conserved splice consensus s equence. It has been identified in 41/126446 European chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs37538423 8).

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