Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV001194986 | SCV002783157 | likely pathogenic | Fanconi anemia complementation group I | 2021-07-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002559234 | SCV003499445 | pathogenic | Fanconi anemia | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1208Valfs*11) 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 (rs796106594, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 929716). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001194986 | SCV004197203 | pathogenic | Fanconi anemia complementation group I | 2024-02-15 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194986 | SCV001364860 | pathogenic | Fanconi anemia complementation group I | 2011-02-07 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |