Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222718 | SCV001394834 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-08-02 | 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: 99860). This premature translational stop signal has been observed in individuals with Joubert syndrome and retinitis pigmentosa (PMID: 16682973, 21866095, 28224992). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1884Thrfs*23) 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). |
Fulgent Genetics, |
RCV002490750 | SCV002782870 | pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2022-02-28 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000086297 | SCV000118443 | not provided | not provided | no assertion provided | not provided | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000678537 | SCV000804611 | pathogenic | Retinitis pigmentosa | 2016-09-01 | no assertion criteria provided | clinical testing |