Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003468180 | SCV004197246 | likely pathogenic | Fanconi anemia complementation group I | 2022-05-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003523189 | SCV004294790 | pathogenic | Fanconi anemia | 2023-03-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This variant is present in population databases (rs772733800, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Tyr1039Leufs*22) in the FANCI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). |