ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9743T>C (p.Ile3248Thr)

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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 RCV004428080 SCV004922024 uncertain significance Inborn genetic diseases 2023-11-20 criteria provided, single submitter clinical testing The c.9743T>C (p.I3248T) alteration is located in exon 70 (coding exon 69) of the CDH23 gene. This alteration results from a T to C substitution at nucleotide position 9743, causing the isoleucine (I) at amino acid position 3248 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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