Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000705229 | SCV000834217 | pathogenic | Fanconi anemia | 2018-06-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with FANCI-related disease. Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1221Argfs*3) in the FANCI gene. It is expected to result in an absent or disrupted protein product. |
Baylor Genetics | RCV003460983 | SCV004197191 | likely pathogenic | Fanconi anemia complementation group I | 2024-03-20 | criteria provided, single submitter | clinical testing |