Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003468176 | SCV004197209 | likely pathogenic | Fanconi anemia complementation group I | 2023-03-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003779032 | SCV004635140 | pathogenic | Fanconi anemia | 2023-10-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu894*) 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). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. For these reasons, this variant has been classified as Pathogenic. |