ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6050-15G>A (rs373838930)

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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 RCV000155053 SCV000204737 uncertain significance not specified 2014-12-29 criteria provided, single submitter clinical testing The c.6050-15G>A variant in CDH23 has not been previously reported in individual s with hearing loss but has been identified in 1/8480 of European chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs 373838930). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. This variant is locat ed in the 3' splice region. Computational tools predict that this variant may cr eate a novel splice acceptor site, which would likely cause a frameshift in the protein; however, this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the c.6050-15G>A variant is unc ertain.
Blueprint Genetics RCV001075025 SCV001240636 uncertain significance Retinal dystrophy 2018-03-20 criteria provided, single submitter clinical testing

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