Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231987 | SCV001404527 | pathogenic | Fanconi anemia | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu14Cysfs*27) 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 (rs761039364, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 958767). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002480759 | SCV002786090 | likely pathogenic | Fanconi anemia complementation group L | 2022-05-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002480759 | SCV004197253 | likely pathogenic | Fanconi anemia complementation group L | 2023-10-20 | criteria provided, single submitter | clinical testing |