Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000201563 | SCV000256374 | pathogenic | Joubert syndrome 5 | 2015-02-23 | criteria provided, single submitter | research | |
Genetic Services Laboratory, |
RCV000502726 | SCV000594072 | pathogenic | Meckel syndrome, type 4 | 2016-01-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763314 | SCV000893991 | pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000816913 | SCV000957442 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1465*) 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 (rs539400286, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis (PMID: 20683928, 29398085). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 217626). For these reasons, this variant has been classified as Pathogenic. |
Kariminejad - |
RCV001030764 | SCV001194259 | pathogenic | Occipital encephalocele | 2019-07-18 | criteria provided, single submitter | clinical testing | |
DBGen Ocular Genomics | RCV001589085 | SCV001816064 | pathogenic | Leber congenital amaurosis 10 | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001529566 | SCV002818938 | pathogenic | not provided | 2023-01-03 | criteria provided, single submitter | clinical testing | Nonsense 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17564967, 19764032, 20683928, 21962508, 22848652, 22995991, 26092869, 28157192, 29398085, 25525159, 33921607, 31589614, 34196201, 35005812) |
Baylor Genetics | RCV003468919 | SCV004216552 | pathogenic | Bardet-Biedl syndrome 14 | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Sharon lab, |
RCV001002937 | SCV001160972 | pathogenic | Leber congenital amaurosis | 2019-06-23 | no assertion criteria provided | research | |
Natera, |
RCV001002937 | SCV001452837 | pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV001529566 | SCV001743212 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529566 | SCV001930478 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001529566 | SCV001953346 | pathogenic | not provided | no assertion criteria provided | clinical testing |