ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8117A>T (p.Gln2706Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002884208 SCV003640509 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.8117A>T (p.Q2706L) alteration is located in exon 57 (coding exon 56) of the CDH23 gene. This alteration results from a A to T substitution at nucleotide position 8117, causing the glutamine (Q) at amino acid position 2706 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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