Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000416254 | SCV000202089 | uncertain significance | not provided | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000408525 | SCV000281904 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000381856 | SCV000359300 | likely benign | Cone-Rod Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000285181 | SCV000359301 | likely benign | Retinitis Pigmentosa, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000323858 | SCV000359302 | likely benign | Stargardt Disease, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000376503 | SCV000359303 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000416254 | SCV000490379 | likely benign | not provided | 2021-06-14 | criteria provided, single submitter | clinical testing | Identified as a single heterozygous variant in an individual with retinitis pigmentosa who had a different genetic etiology for the phenotype (Eisenberger et al., 2013); This variant is associated with the following publications: (PMID: 28044389, 29925512, 32581362, 24265693, 25346251, 26720470, 28224992, 29555955, 29854428, 28118664, 28041643) |
Ce |
RCV000416254 | SCV000493538 | uncertain significance | not provided | 2017-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000416254 | SCV001106747 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073617 | SCV001239168 | uncertain significance | Retinal dystrophy | 2019-07-19 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV001073617 | SCV004707279 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
NIHR Bioresource Rare Diseases, |
RCV000504993 | SCV000598985 | likely pathogenic | Cone dystrophy | 2015-01-01 | no assertion criteria provided | research |