Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812456 | SCV000952770 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-11-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys195*) 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 (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 591393). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000722572 | SCV002019896 | likely pathogenic | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507274 | SCV002815208 | likely pathogenic | Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 | 2022-05-10 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000722572 | SCV000853703 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research | |
Natera, |
RCV001273840 | SCV001457425 | pathogenic | Familial aplasia of the vermis | 2020-09-16 | no assertion criteria provided | clinical testing |