ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8416T>A (p.Ser2806Thr)

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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 RCV002859231 SCV003617466 uncertain significance Inborn genetic diseases 2022-04-28 criteria provided, single submitter clinical testing The c.8416T>A (p.S2806T) alteration is located in exon 59 (coding exon 58) of the CDH23 gene. This alteration results from a T to A substitution at nucleotide position 8416, causing the serine (S) at amino acid position 2806 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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