ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9380+5G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002463826 SCV002600903 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2022-10-12 criteria provided, single submitter clinical testing A homozygous 5' splice site variation in intron 66 of the CDH23 gene (chr10:g.71812020G>C; Depth: 107x) that affects the position 5 nucleotides downstream of donor splice site of exon 66 (c.9380+5G>C; ENST00000224721.12) was detected (Table). The variant has not been reported in 1000 genomes, gnomAD and in our internal databases. The in silico predictions# of the variant is damaging by MutationTaster2. The reference base is conserved across species.

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