Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757076 | SCV000885169 | pathogenic | not provided | 2017-10-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000817988 | SCV000958576 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys1343Argfs*2) 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 0.02%). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis and Joubert syndrome (PMID: 17345604, 29588463). ClinVar contains an entry for this variant (Variation ID: 618559). For these reasons, this variant has been classified as Pathogenic. |
Knight Diagnostic Laboratories, |
RCV001270095 | SCV001448912 | pathogenic | Meckel syndrome, type 4 | 2017-11-10 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001814230 | SCV002061415 | likely pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 | 2021-06-29 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Fulgent Genetics, |
RCV002507328 | SCV002816324 | pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2021-12-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003465675 | SCV004216565 | pathogenic | Bardet-Biedl syndrome 14 | 2024-03-13 | criteria provided, single submitter | clinical testing |