ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1514+6A>G (rs367949981)

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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 RCV000223453 SCV000271549 uncertain significance not specified 2015-05-27 criteria provided, single submitter clinical testing The c.1514+6A>G variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome. This variant has been identified in 3/965 2 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNP rs367949981). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic r ole. This variant is located in the 5' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enou gh to rule out pathogenicity. In summary, the clinical significance of the c.151 4+6A>G variant is uncertain.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727018 SCV000704974 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing

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