Total submissions: 7
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 | Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis | 2019-10-26 | 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. This variant is present in population databases (rs539400286, ExAC 0.007%). This variant has been observed to segregate with Leber congenital amaurosis in a family and has been observed in combination with another CEP290 variant in unrelated individuals affected with this condition (PMID: 29398085, 20683928). ClinVar contains an entry for this variant (Variation ID: 217626). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). 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 | |
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 |