Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002484061 | SCV002781887 | likely pathogenic | Fanconi anemia complementation group I | 2022-04-24 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002484061 | SCV004197232 | likely pathogenic | Fanconi anemia complementation group I | 2022-09-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003523081 | SCV004337406 | pathogenic | Fanconi anemia | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg602*) 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 (no rsID available, 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: 929725). For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV001194996 | SCV001364873 | likely pathogenic | Gastric cancer | 2018-10-01 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Marjolijn JL Ligtenberg. |