Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000864580 | SCV001005400 | benign | Fanconi anemia | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311755 | SCV001502054 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | FANCF: BP4, BS2 |
Gene |
RCV001311755 | SCV001767649 | uncertain significance | not provided | 2020-10-03 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Prevention |
RCV003908201 | SCV004726860 | likely benign | FANCF-related condition | 2023-02-16 | 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). |