Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Medicine, |
RCV000656136 | SCV000611555 | pathogenic | Macular dystrophy | 2017-10-27 | criteria provided, single submitter | research | |
Invitae | RCV001057046 | SCV001221518 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2023-09-08 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with macular dystrophy (PMID: 29391521). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 446253). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser478Profs*24) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). |
Genome- |
RCV003449466 | SCV004179920 | pathogenic | Leber congenital amaurosis 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449467 | SCV004179921 | pathogenic | Pigmented paravenous retinochoroidal atrophy | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449465 | SCV004179922 | pathogenic | Retinitis pigmentosa 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003449466 | SCV004211176 | pathogenic | Leber congenital amaurosis 8 | 2023-07-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001275647 | SCV001460938 | pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |