ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.754-3dup (rs730880346)

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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 RCV000155614 SCV000205322 uncertain significance not specified 2013-05-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 754-3_754-2insC variant in CDH23 has not been reported in individuals affected with hearing los s or in large population databases. This variant is located in the 3' splice reg ion. Computational tools do not suggest an impact to splicing. However, this inf ormation is not predictive enough to rule out pathogenicity. In summary, the cli nical significance of this variant cannot be determined with certainty; however based upon the arguments described above, we would lean towards a more likely be nign role.

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