ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5713-9A>G (rs397517343)

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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 RCV000039225 SCV000062909 uncertain significance not specified 2012-03-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 5713-9A>G 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. Although posit ion -9 is part of the splice site region, the reference sequence was already div ergent from consensus (normally a T or C at this position) and therefore computa tional tools do not predict further divergence of the splice site from the conse nsus sequence. This would suggest an unlikely impact to splicing; however, the p redictability of these tools to assess splicing impact is unknown and therefore we cannot rule out an effect. In summary, the clinical significance of this vari ant cannot be determined with certainty; however, we would lean towards a more l ikely benign role.

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