Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001060954 | SCV001225676 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 38 of the CEP290 gene. It does not directly change the encoded amino acid sequence of the CEP290 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Senior-Loken syndrome or retinal disease (PMID: 23188109, 29641573). ClinVar contains an entry for this variant (Variation ID: 855645). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV002482052 | SCV002792416 | uncertain significance | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2022-02-08 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003467812 | SCV004216712 | uncertain significance | Bardet-Biedl syndrome 14 | 2023-01-25 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001832545 | SCV002094200 | uncertain significance | Leber congenital amaurosis | 2020-11-25 | no assertion criteria provided | clinical testing |