Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000243199 | SCV000313969 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001211136 | SCV001382661 | pathogenic | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | This variant, c.2359_2382del, results in the deletion of 8 amino acid(s) of the CDH23 protein (p.Leu787_Asp794del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of Usher syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 261544). For these reasons, this variant has been classified as Pathogenic. |