Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810414 | SCV000950612 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg549*) 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 present in population databases (rs760415289, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with CEP290-related conditions (PMID: 17409309, 22355252, 27434533). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 654447). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001091339 | SCV001247307 | pathogenic | not provided | 2017-10-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487758 | SCV002800589 | pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2022-05-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003467439 | SCV004216521 | pathogenic | Bardet-Biedl syndrome 14 | 2023-09-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274127 | SCV001457924 | pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001091339 | SCV001952405 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001091339 | SCV001974887 | pathogenic | not provided | no assertion criteria provided | clinical testing |