ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9437C>T (p.Ala3146Val)

dbSNP: rs779480321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346817 SCV000339373 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519208 SCV003543931 uncertain significance Inborn genetic diseases 2022-11-04 criteria provided, single submitter clinical testing The c.9437C>T (p.A3146V) alteration is located in exon 67 (coding exon 66) of the CDH23 gene. This alteration results from a C to T substitution at nucleotide position 9437, causing the alanine (A) at amino acid position 3146 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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