ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6011G>A (p.Gly2004Asp) (rs745568647)

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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 RCV000825886 SCV000967371 uncertain significance not specified 2018-04-10 criteria provided, single submitter clinical testing The p.Gly2004Asp variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome and was absent from large population studi es. Computational prediction tools and conservation analysis suggest that the p. Gly2004Asp variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly2004Asp variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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