ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) (rs373168635)

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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 RCV000825296 SCV000966591 uncertain significance not specified 2019-01-17 criteria provided, single submitter clinical testing The p.Pro402Leu variant in CDH23 has been previously reported in an individual w ith hearing loss who also harbored a second variant in CDH23 in trans with this variant (Kim 2016). This variant has been identified in 0.017% (4/24172) of Afri can chromosomes by gnomAD ( Computational pre diction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogen icity. In summary, the clinical significance of this variant is uncertain. ACMG/ AMP criteria applied: PM2, PP3, PM3_Supporting.
Natera, Inc. RCV001271842 SCV001453313 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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