ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8065-9C>T (rs397517355)

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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 RCV000039280 SCV000062964 uncertain significance not specified 2012-04-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 8065-9C>T varia nt in CDH23 has not been reported in the literature nor previously identified by our laboratory. This variant is located in the 3' splice region; however, compu tational tools do not predict divergence from the splice consensus sequence. In summary, the clinical significance of this variant cannot be determined with cer tainty; however, we would lean towards a more likely benign role based on a lack of predicted splicing impact.

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