ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys)

dbSNP: rs375329233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075172 SCV001240784 uncertain significance Retinal dystrophy 2018-10-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559176 SCV001781266 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559177 SCV001781267 uncertain significance Usher syndrome type 1D 2021-07-14 criteria provided, single submitter clinical testing

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