ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8534G>A (p.Arg2845His) (rs199668532)

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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 RCV000156174 SCV000205890 uncertain significance not specified 2013-11-22 criteria provided, single submitter clinical testing The Arg2845His variant in CDH23 has not been previously reported in individuals with hearing loss but has been reported in 1/1152 (0.2%) chromosomes from a broa d population by the CLINSEQ project (dbSNP rs199668532). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT ) do not provide strong support for or against an impact to the protein. In summ ary, additional data is needed to determine the clinical significance of this va riant.

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