ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7661-14G>C (rs767603792)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000613465 SCV000731514 uncertain significance not specified 2017-03-20 criteria provided, single submitter clinical testing The c.7661-14G>C variant in CDH23 has not been previously reported in individual s with hearing loss, but was identified in 1/13210 South Asian chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs76 7603792). Although this variant has been seen in the general population, its fre quency is not high enough to rule out a pathogenic role. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splici ng. However, this information is not predictive enough to rule out pathogenicity . In summary, the clinical significance of the c.7661-14G>C variant is uncertain .

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