Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685297 | SCV000812775 | likely benign | Fanconi anemia | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV003237986 | SCV002010178 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816695 | SCV002071991 | uncertain significance | not specified | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000685297 | SCV002535021 | uncertain significance | Fanconi anemia | 2021-07-22 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV001274526 | SCV002782069 | uncertain significance | Fanconi anemia complementation group A | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003237986 | SCV004218574 | uncertain significance | not provided | 2023-08-31 | criteria provided, single submitter | clinical testing | In the published literature, the variant has been reported in an individual with neuroblastoma (PMID: 27997549 (2016)) as well as in an unaffected individual (PMID: 29641532 (2018)). The frequency of this variant in the general population, 0.00024 (12/50778 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the 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. |
Natera, |
RCV001274526 | SCV001458755 | uncertain significance | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |