Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465739 | SCV000547742 | benign | Fanconi anemia | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV003237725 | SCV002010166 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000120959 | SCV002065344 | uncertain significance | not specified | 2021-04-23 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003237725 | SCV004218620 | uncertain significance | not provided | 2023-05-11 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in individuals affected with a FANCA related disease in the published literature. The frequency of this variant in the general population, 0.00065 (33/50818 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
ITMI | RCV000120959 | SCV000085127 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Natera, |
RCV000465739 | SCV002090763 | uncertain significance | Fanconi anemia | 2020-02-14 | no assertion criteria provided | clinical testing |