ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3220+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195490 SCV001365867 uncertain significance not specified 2019-09-25 criteria provided, single submitter clinical testing The c.3220+5G>A variant in CDH23 has not been previously reported in individuals with Usher syndrome or hearing loss but has been identified in 0.01% (4/24116) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is located in the 5' splice region. Computational tools predict a splicing impact, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3.

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