ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5869_5874del (p.Pro1957_Leu1958del) (rs397517345)

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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 RCV000039229 SCV000062913 uncertain significance not specified 2012-04-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Pro1957_Leu 1958del variant in CDH23 has not been reported in the literature nor previously identified by our laboratory. This variant leads to an in-frame deletion of two codons. The clinical significance of this variant cannot be determined with cert ainty; however, based upon the combination of this variant with a Likely Pathoge nic variant and the fact that removal of two amino acids is likely to impact pro tein structure, we would lean towards a more likely pathogenic role.

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