ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe)

dbSNP: rs1841063934
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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 RCV001449711 SCV001652967 uncertain significance not specified 2020-06-04 criteria provided, single submitter clinical testing The p.Ile1890Phe variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome, and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, 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, PP3.
Natera, Inc. RCV001278270 SCV001465268 uncertain significance Usher syndrome type 1 2020-08-14 no assertion criteria provided clinical testing

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