ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2954-5del

dbSNP: rs766850828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000609301 SCV000713661 uncertain significance not specified 2017-09-14 criteria provided, single submitter clinical testing The c.2954-5delC variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/92700 Europe an chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org; dbSNP rs766850828). Although this variant has been seen in the gene ral population, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 3' splice region. Computational tools do not sugg est an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.2954-5de lC variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513986 SCV001721708 benign not provided 2023-09-19 criteria provided, single submitter clinical testing

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