Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002017506 | SCV002295035 | likely pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2022-05-03 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with Leber congenital amaurosis (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 14 of the CEP290 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). |
| Fulgent Genetics, |
RCV002507780 | SCV002810974 | likely pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2024-05-24 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003471253 | SCV004216650 | likely pathogenic | Bardet-Biedl syndrome 14 | 2023-05-05 | criteria provided, single submitter | clinical testing |