ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) (rs878853337)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760510 SCV000890401 pathogenic not provided 2018-10-19 criteria provided, single submitter clinical testing The Y2636X nonsense variant in the CDH23 gene has been observed in the heterozygous state previously in association with Usher syndrome (Ellingford et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). In summary, we classify this variant as pathogenic.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225547 SCV000282536 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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