Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081371 | SCV000113302 | benign | not specified | 2015-10-19 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000286823 | SCV000474198 | benign | Retinitis pigmentosa | 2018-01-12 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Labcorp Genetics |
RCV000132660 | SCV001728893 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001795143 | SCV002033685 | benign | Retinitis pigmentosa 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003888440 | SCV004706751 | benign | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Breakthrough Genomics, |
RCV000132660 | SCV005267794 | benign | not provided | criteria provided, single submitter | not provided | ||
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132660 | SCV000172611 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. | |
Faculty of Health Sciences, |
RCV001257895 | SCV001434663 | pathogenic | Autosomal recessive retinitis pigmentosa | 2012-10-26 | no assertion criteria provided | literature only | |
Diagnostic Laboratory, |
RCV000081371 | SCV001739822 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000081371 | SCV001918726 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000081371 | SCV001953404 | benign | not specified | no assertion criteria provided | clinical testing |