Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039207 | SCV000062891 | pathogenic | Rare genetic deafness | 2012-02-20 | no assertion criteria provided | clinical testing | The Gln1758X variant in CDH23 has not been reported in the literature. The Gln17 58X variant leads to a premature stop codon at position 1758, which is predicted to lead to a truncated or absent protein. Therefore, this variant meets our cri teria to be classified as pathogenic. |