ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1450-10G>A (rs751220612)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000611881 SCV000712518 uncertain significance not specified 2016-10-18 criteria provided, single submitter clinical testing The c.1450-10G>A variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome. It has been identified in 4/66404 Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs751220612); however, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 3' splice region. Computat ional tools do not suggest an impact to splicing. However, this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of the c.1450-10G>A variant is uncertain.
Invitae RCV000928707 SCV001074322 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985224 SCV001133255 uncertain significance Usher syndrome type 1D 2019-09-26 no assertion criteria provided clinical testing

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