ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) (rs201434373)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764921 SCV000896084 uncertain significance Deafness, autosomal recessive 12; Usher syndrome, type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305248 SCV000363850 uncertain significance CDH23-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353028 SCV000363851 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260501 SCV000363852 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039257 SCV000062941 likely benign not specified 2019-03-01 criteria provided, single submitter clinical testing The p.Arg2309Gln variant in CDH23 is classified as likely benign because it has been identified in 0.24% (47/19534) of East Asian chromosomes by gnomAD (http:/ /gnomad.broadinstitute.org), and computational prediction tools do not suggest a n impact to the protein. Although it has been previously reported by our laborat ory in 3 individuals with hearing loss, none of these individuals were found to have a pathogenic variant in CDH23 in trans.

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