Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708056 | SCV000837166 | pathogenic | Bardet-Biedl syndrome | 2017-09-26 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 10-12 of the WDPCP gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with WDPCP-related disease. Loss-of-function variants in WDPCP are known to be pathogenic (PMID: 20671153). For these reasons, this variant has been classified as Pathogenic. |