ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9046C>T (p.Arg3016Cys)

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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 RCV004981314 SCV005555962 uncertain significance Inborn genetic diseases 2024-08-21 criteria provided, single submitter clinical testing The c.9046C>T (p.R3016C) alteration is located in exon 62 (coding exon 61) of the CDH23 gene. This alteration results from a C to T substitution at nucleotide position 9046, causing the arginine (R) at amino acid position 3016 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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