Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047416 | SCV001211375 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-12-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu543*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 28453600). ClinVar contains an entry for this variant (Variation ID: 844541). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003467750 | SCV004216634 | pathogenic | Bardet-Biedl syndrome 14 | 2023-05-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001832446 | SCV002094323 | pathogenic | Leber congenital amaurosis | 2021-04-29 | no assertion criteria provided | clinical testing |