ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9086A>C (p.Gln3029Pro) (rs397517365)

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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 RCV000039305 SCV000062989 uncertain significance not specified 2011-10-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gln3029Pro vari ant in CDH23 has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, hom ology, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In the absence of additional information, such as identification of a second CDH23 variant in this individual, control data, segregation studies or functional analysis, the clinical significance of this variant cannot be dete rmined at this time.

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