ClinVar Miner

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

dbSNP: rs1057520662
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Total submissions: 4
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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.
Clinical Genetics, Academic Medical Center RCV000421709 SCV001918629 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000421709 SCV001965654 pathogenic not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001828406 SCV002087592 pathogenic Usher syndrome type 1 2021-09-27 no assertion criteria provided clinical testing

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