Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000823686 | SCV000964554 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2021-08-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1268*) 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 not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Senior-Loken syndrome (PMID: 23188109). ClinVar contains an entry for this variant (Variation ID: 665410). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003467520 | SCV004216527 | pathogenic | Bardet-Biedl syndrome 14 | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001830822 | SCV002094247 | pathogenic | Leber congenital amaurosis | 2020-12-30 | no assertion criteria provided | clinical testing |