ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9311G>C (p.Gly3104Ala)

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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 RCV004981322 SCV005557980 uncertain significance Inborn genetic diseases 2024-09-08 criteria provided, single submitter clinical testing The c.9311G>C (p.G3104A) alteration is located in exon 65 (coding exon 64) of the CDH23 gene. This alteration results from a G to C substitution at nucleotide position 9311, causing the glycine (G) at amino acid position 3104 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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