Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000211880 | SCV000166752 | benign | not specified | 2012-10-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000211880 | SCV000303771 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000379050 | SCV000359240 | likely benign | Cone-Rod Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000284620 | SCV000359241 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000339604 | SCV000359242 | likely benign | Stargardt Disease, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000375640 | SCV000359243 | likely benign | Retinitis Pigmentosa, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000211880 | SCV000858473 | benign | not specified | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001096228 | SCV001252425 | likely benign | ABCA4-related disorder | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Centre for Mendelian Genomics, |
RCV001195781 | SCV001366201 | uncertain significance | Age related macular degeneration 2 | 2020-03-21 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PP3. |
Labcorp Genetics |
RCV000085768 | SCV004446077 | benign | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003888479 | SCV004706514 | benign | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Retina International | RCV000085768 | SCV000117909 | not provided | not provided | no assertion provided | not provided | ||
Ophthalmo- |
RCV004562249 | SCV005049258 | benign | Severe early-childhood-onset retinal dystrophy | no assertion criteria provided | research |