Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001212916 | SCV001384526 | pathogenic | Fanconi anemia | 2023-09-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 929685). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 17924555). This variant is present in population databases (rs753727461, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu207Profs*2) in the FANCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). |
Fulgent Genetics, |
RCV001194949 | SCV002813937 | pathogenic | Fanconi anemia complementation group G | 2022-03-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003883573 | SCV004698547 | pathogenic | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | FANCG: PVS1, PM2, PM3 |
Leiden Open Variation Database | RCV001194949 | SCV001364817 | pathogenic | Fanconi anemia complementation group G | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Natera, |
RCV001194949 | SCV002077468 | pathogenic | Fanconi anemia complementation group G | 2021-06-11 | no assertion criteria provided | clinical testing |