ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) (rs368603948)

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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, Partners HealthCare Personalized Medicine RCV000155057 SCV000204741 uncertain significance not specified 2014-07-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Asp3032Asn variant in CDH23 has not been previously reported in individuals with hearing lo ss, but has been identified in 1/8432 of European American chromosomes by the NH LBI Exome Sequencing Project (http://evs.gs.washington.edu). Although this varia nt has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation anal yses suggest that the Asp3032Asn variant may impact the protein, though this inf ormation is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain.
Blueprint Genetics RCV001075188 SCV001240801 uncertain significance Retinal dystrophy 2018-11-06 criteria provided, single submitter clinical testing

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