ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2098C>G (p.Arg700Gly)

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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 RCV004610061 SCV005107701 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.2098C>G (p.R700G) alteration is located in exon 20 (coding exon 19) of the CDH23 gene. This alteration results from a C to G substitution at nucleotide position 2098, causing the arginine (R) at amino acid position 700 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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