Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804708 | SCV000944630 | pathogenic | Fanconi anemia | 2018-07-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant has not been reported in the literature in individuals with FANCC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr420Argfs*27) in the FANCC gene. It is expected to result in an absent or disrupted protein product. |
Mendelics | RCV000988203 | SCV001137840 | pathogenic | Fanconi anemia complementation group A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003467405 | SCV004196666 | pathogenic | Fanconi anemia complementation group C | 2023-07-07 | criteria provided, single submitter | clinical testing |