ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7660+1G>T (rs1057520662)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421709 SCV000516804 pathogenic not provided 2015-05-28 criteria provided, single submitter clinical testing The c.7760+1 G>T splice site mutation in the CDH23 gene has been previouslyreported in association with Usher syndrome type I (Schultz et al., 2011). Specifically, the c.7760+1 G>T variant was identified in a patient who was compound heterozygous for the c.288+1 G>C splice site variant (Schultz et al., 2011). The c.7760+1 G>T variant destroys the canonical splice donor site in intron 54, and is expected to cause abnormal gene splicing. Therefore, we interpret this variant to be pathogenic.

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