Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001144256 | SCV001304845 | uncertain significance | Atypical hemolytic-uremic syndrome with I 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV001858949 | SCV002123345 | uncertain significance | not provided | 2020-12-28 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with CFI-related conditions. ClinVar contains an entry for this variant (Variation ID: 899595). This variant is present in population databases (rs770655669, ExAC 0.01%). This sequence change affects the initiator methionine of the CFI mRNA. The next in-frame methionine is located at codon 138. |
Fulgent Genetics, |
RCV002482275 | SCV002789384 | uncertain significance | Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency | 2021-12-23 | criteria provided, single submitter | clinical testing | |
Yale Center for Mendelian Genomics, |
RCV001849476 | SCV002106632 | likely pathogenic | Complement-mediated glomerular disease | 2020-05-03 | no assertion criteria provided | literature only |