Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001220513 | SCV001392507 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu2448Thrfs*8) in the CEP290 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the CEP290 protein. This variant is present in population databases (rs281865189, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with CEP290-related conditions (PMID: 16682973, 16909394, 29588463). This variant is also known as 7341-7342insA. ClinVar contains an entry for this variant (Variation ID: 99864). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002498467 | SCV002811003 | likely pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000086302 | SCV003831586 | uncertain significance | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003467018 | SCV004216568 | pathogenic | Bardet-Biedl syndrome 14 | 2024-03-25 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000086302 | SCV000118448 | not provided | not provided | no assertion provided | not provided | ||
Natera, |
RCV001831898 | SCV002091806 | pathogenic | Leber congenital amaurosis | 2020-10-12 | no assertion criteria provided | clinical testing |