ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.890G>T (p.Gly297Val)

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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 RCV004610080 SCV005109797 uncertain significance Inborn genetic diseases 2024-06-04 criteria provided, single submitter clinical testing The c.890G>T (p.G297V) alteration is located in exon 10 (coding exon 9) of the CDH23 gene. This alteration results from a G to T substitution at nucleotide position 890, causing the glycine (G) at amino acid position 297 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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