Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761291 | SCV000891264 | pathogenic | Fanconi anemia complementation group G | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001067732 | SCV001232804 | pathogenic | Fanconi anemia | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser387Leufs*9) 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). This variant is present in population databases (rs781582249, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 23613520, 28717661). ClinVar contains an entry for this variant (Variation ID: 623182). For these reasons, this variant has been classified as Pathogenic. |
Knight Diagnostic Laboratories, |
RCV001067732 | SCV001448810 | likely pathogenic | Fanconi anemia | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000761291 | SCV002806829 | pathogenic | Fanconi anemia complementation group G | 2022-04-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000761291 | SCV004199112 | pathogenic | Fanconi anemia complementation group G | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000761291 | SCV001364833 | uncertain significance | Fanconi anemia complementation group G | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Natera, |
RCV000761291 | SCV002077450 | pathogenic | Fanconi anemia complementation group G | 2020-09-03 | no assertion criteria provided | clinical testing |