Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000259759 | SCV000462001 | benign | Atypical hemolytic-uremic syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000319518 | SCV000462002 | benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000319518 | SCV000462005 | benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000259759 | SCV000462006 | benign | Atypical hemolytic-uremic syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000319518 | SCV000484213 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000281261 | SCV000484214 | likely benign | Complement component 2 deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000455762 | SCV000538521 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Illumina Laboratory Services, |
RCV001154197 | SCV001315532 | benign | Atypical hemolytic-uremic syndrome with B factor anomaly | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Labcorp Genetics |
RCV001515636 | SCV001723753 | benign | not provided | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001515636 | SCV001745566 | benign | not provided | 2018-11-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28173125, 16518403, 19255449, 21555552, 16936732, 23112567, 18806293) |
Genome Diagnostics Laboratory, |
RCV002293980 | SCV002587291 | benign | Focal segmental glomerulosclerosis | 2022-09-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504800 | SCV002796574 | benign | Complement component 2 deficiency; Age related macular degeneration 14 | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001515636 | SCV005225533 | likely benign | not provided | criteria provided, single submitter | not provided | ||
OMIM | RCV000017453 | SCV000037725 | benign | Factor B fast/slow polymorphism | 1994-01-01 | no assertion criteria provided | literature only | |
OMIM | RCV000017454 | SCV000037726 | benign | BF*FA/S | 2017-10-30 | no assertion criteria provided | literature only | |
OMIM | RCV000017458 | SCV000037730 | protective | Age related macular degeneration 14 | 2016-08-12 | no assertion criteria provided | literature only | |
Genome Diagnostics Laboratory, |
RCV000455762 | SCV001931346 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000455762 | SCV001958716 | benign | not specified | no assertion criteria provided | clinical testing |