Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000152715 | SCV000166751 | 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. |
Eurofins Ntd Llc |
RCV000152715 | SCV000202101 | benign | not specified | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000152715 | SCV000303769 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000281163 | SCV000359244 | likely benign | Stargardt Disease, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000336246 | SCV000359245 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000407106 | SCV000359246 | likely benign | Retinitis Pigmentosa, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000313494 | SCV000359247 | likely benign | Cone-Rod Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001096229 | SCV001252426 | benign | ABCA4-Related Disorders | 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. |
Laboratory for Molecular Medicine, |
RCV000152715 | SCV001652925 | benign | not specified | 2020-06-04 | criteria provided, single submitter | clinical testing | The c.5836-11G>A variant in ABCA4 is classified as benign because it has been identified in 25.8% (6425/24908) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1. |
Invitae | RCV000085763 | SCV001723899 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001548896 | SCV001768898 | benign | Severe early-childhood-onset retinal dystrophy | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001548897 | SCV001768899 | benign | Retinitis pigmentosa 19 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001548898 | SCV001768900 | benign | Cone-rod dystrophy 3 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001548899 | SCV001768901 | benign | Age related macular degeneration 2 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085763 | SCV000117904 | not provided | not provided | no assertion provided | not provided | ||
Genome |
RCV000085763 | SCV000607280 | not provided | not provided | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Diagnostic Laboratory, |
RCV000152715 | SCV001742361 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000152715 | SCV001957127 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000152715 | SCV001975230 | benign | not specified | no assertion criteria provided | clinical testing |