ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2467T>C (p.Phe823Leu)

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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 RCV002768616 SCV003750807 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.2467T>C (p.F823L) alteration is located in exon 23 (coding exon 22) of the CDH23 gene. This alteration results from a T to C substitution at nucleotide position 2467, causing the phenylalanine (F) at amino acid position 823 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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