Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862524 | SCV001003039 | benign | Fanconi anemia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000862524 | SCV002534236 | likely benign | Fanconi anemia | 2022-01-22 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002501213 | SCV002804396 | likely benign | Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus | 2021-12-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955588 | SCV004768413 | likely benign | FANCB-related condition | 2020-02-03 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |