Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000168109 | SCV000218765 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp571Glyfs*12) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). This variant is present in population databases (rs778149316, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 188192). For these reasons, this variant has been classified as Pathogenic. |
UW Hindbrain Malformation Research Program, |
RCV000201673 | SCV000256470 | pathogenic | Joubert syndrome 7 | 2015-02-23 | criteria provided, single submitter | research | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001280714 | SCV001468020 | pathogenic | not provided | 2020-08-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001280714 | SCV002019897 | pathogenic | not provided | 2019-10-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498833 | SCV002810080 | pathogenic | Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 | 2022-01-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271280 | SCV001452353 | pathogenic | Familial aplasia of the vermis | 2020-09-16 | no assertion criteria provided | clinical testing |