ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8407G>T (p.Val2803Phe)

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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 RCV004428076 SCV004922014 uncertain significance Inborn genetic diseases 2024-03-14 criteria provided, single submitter clinical testing The c.8407G>T (p.V2803F) alteration is located in exon 59 (coding exon 58) of the CDH23 gene. This alteration results from a G to T substitution at nucleotide position 8407, causing the valine (V) at amino acid position 2803 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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