ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.907A>G (p.Asn303Asp)

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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 RCV004981328 SCV005557998 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.907A>G (p.N303D) alteration is located in exon 10 (coding exon 9) of the CDH23 gene. This alteration results from a A to G substitution at nucleotide position 907, causing the asparagine (N) at amino acid position 303 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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