Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205928 | SCV001377210 | pathogenic | Bardet-Biedl syndrome | 2022-07-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 936995). This variant has not been reported in the literature in individuals affected with WDPCP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln451Glufs*3) in the WDPCP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WDPCP are known to be pathogenic (PMID: 20671153, 25427950, 27158779). |
Revvity Omics, |
RCV003132267 | SCV003814790 | likely pathogenic | not provided | 2021-11-29 | criteria provided, single submitter | clinical testing |