Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000201679 | SCV000256367 | pathogenic | Joubert syndrome 5 | 2015-02-23 | criteria provided, single submitter | research | |
Gene |
RCV000487320 | SCV000568655 | pathogenic | not provided | 2023-12-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 17564967, 34426522, 26092869, 36369640, 34906470, 32359821, 31964843, 29398085, 21866095) |
Genetic Services Laboratory, |
RCV000501294 | SCV000594071 | pathogenic | Bardet-Biedl syndrome 14 | 2015-08-07 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics Munich, |
RCV000201679 | SCV001149703 | pathogenic | Joubert syndrome 5 | 2020-01-16 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV001002716 | SCV001156392 | pathogenic | Senior-Loken syndrome 6 | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001224012 | SCV001396185 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val2093Serfs*4) 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 (rs771454167, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with clinical features of CEP290-related conditions (PMID: 17564967, 21866095, 26092869). ClinVar contains an entry for this variant (Variation ID: 217621). For these reasons, this variant has been classified as Pathogenic. |
Ocular Genomics Institute, |
RCV001376478 | SCV001573633 | likely pathogenic | Leber congenital amaurosis 10 | 2021-04-08 | criteria provided, single submitter | research | The CEP290 c.6277del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. |
Fulgent Genetics, |
RCV002500628 | SCV002775885 | pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000501294 | SCV004214851 | pathogenic | Bardet-Biedl syndrome 14 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000201679 | SCV005368433 | pathogenic | Joubert syndrome 5 | 2020-04-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828038 | SCV002091845 | pathogenic | Leber congenital amaurosis | 2021-09-15 | no assertion criteria provided | clinical testing |