ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5674G>A (p.Ala1892Thr) (rs727505054)

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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 RCV000156483 SCV000206202 uncertain significance not specified 2014-03-21 criteria provided, single submitter clinical testing The Ala1892Thr variant in CDH23 has not been reported in individuals with hearin g loss or in large population studies. Computational prediction tools and conser vation analysis suggest that the Ala1892Thr variant may impact the protein, thou gh this information is not predictive enough to determine pathogenicity. Additio nal information is needed to fully assess its clinical significance.

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