Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000988880 | SCV001138778 | pathogenic | Joubert syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001869357 | SCV002135930 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-09-15 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with clinical features of Joubert syndrome and/or Leber congenital amaurosis (PMID: 17409309, 29186038). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This sequence change falls in intron 45 of the CEP290 gene. It does not directly change the encoded amino acid sequence of the CEP290 protein. This variant is present in population databases (no rsID available, gnomAD 0.008%). ClinVar contains an entry for this variant (Variation ID: 802875). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252287 | SCV002523778 | likely pathogenic | See cases | 2020-08-25 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4, PM2, PM3, PP3 |
| Baylor Genetics | RCV003467551 | SCV004214863 | pathogenic | Bardet-Biedl syndrome 14 | 2023-10-16 | criteria provided, single submitter | clinical testing |