Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246492 | SCV001419850 | likely benign | Fanconi anemia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002499424 | SCV002783288 | uncertain significance | Fanconi anemia complementation group A | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478753 | SCV004221969 | uncertain significance | not provided | 2022-05-26 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0012 (41/34512 chromosomes in Latino/Admixed American subpopulation, http://gnomad.broadinstitute.org), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on FANCA mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant. |
Natera, |
RCV001246492 | SCV002092603 | uncertain significance | Fanconi anemia | 2020-02-26 | no assertion criteria provided | clinical testing |