ClinVar Miner

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

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Total submissions: 3
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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.
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375072 SCV001571841 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
Natera, Inc. RCV001276057 SCV001461885 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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