Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000086328 | SCV000232816 | pathogenic | not provided | 2014-09-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000086328 | SCV000576655 | pathogenic | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 15024725, 34003923, 25525159, 28041643, 29391521, 28559085, 20956273, 31875109, 32036094, 32581362, 31589614, 32037395, 35119454) |
Molecular Medicine, |
RCV000505142 | SCV000611554 | pathogenic | Macular dystrophy | 2017-10-27 | criteria provided, single submitter | research | |
Invitae | RCV000542027 | SCV000650637 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys896*) 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). This variant is present in population databases (rs62636273, gnomAD 0.009%). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis, early-onset retinal dystrophy, and retinitis pigmentosa (PMID: 15024725, 20683928, 20956273, 23379534). ClinVar contains an entry for this variant (Variation ID: 99888). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074017 | SCV001239583 | pathogenic | Retinal dystrophy | 2018-10-18 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV001376474 | SCV001573628 | pathogenic | Retinitis pigmentosa 12 | 2021-04-08 | criteria provided, single submitter | research | The CRB1 c.2688T>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP5. Based on this evidence we have classified this variant as Pathogenic. |
Broad Institute Rare Disease Group, |
RCV001723672 | SCV001950250 | pathogenic | Retinitis pigmentosa | 2021-04-01 | criteria provided, single submitter | curation | The p.Cys896Ter variant in CRB1 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP5. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab. |
Revvity Omics, |
RCV000086328 | SCV002019727 | pathogenic | not provided | 2020-06-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001250608 | SCV004180069 | pathogenic | Leber congenital amaurosis 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453019 | SCV004180071 | pathogenic | Pigmented paravenous retinochoroidal atrophy | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001376474 | SCV004180072 | pathogenic | Retinitis pigmentosa 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001250608 | SCV004211105 | pathogenic | Leber congenital amaurosis 8 | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000086328 | SCV000118474 | not provided | not provided | no assertion provided | not provided | ||
NIHR Bioresource Rare Diseases, |
RCV000505142 | SCV000598917 | pathogenic | Macular dystrophy | 2015-01-01 | no assertion criteria provided | research | |
Laboratory of Genetics in Ophthalmology, |
RCV001250608 | SCV001425476 | pathogenic | Leber congenital amaurosis 8 | no assertion criteria provided | research | ||
Natera, |
RCV001275654 | SCV001460945 | pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |