Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003842829 | SCV004641437 | pathogenic | Fanconi anemia | 2023-09-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu5Lysfs*36) in the FANCL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCL are known to be pathogenic (PMID: 19405097, 23613520). This variant is present in population databases (rs764407713, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV004573356 | SCV005057736 | likely pathogenic | Fanconi anemia complementation group L | 2024-01-09 | criteria provided, single submitter | clinical testing |