Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052881 | SCV001217116 | likely benign | Fanconi anemia | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478679 | SCV004221905 | uncertain significance | not provided | 2023-01-05 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population, 0.000018 (5/280386 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in healthy individuals (PMIDs: 29641532 (2018) and 32546565 (2021)). 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, |
RCV001052881 | SCV002095069 | uncertain significance | Fanconi anemia | 2020-10-05 | no assertion criteria provided | clinical testing |