Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227769 | SCV000283599 | likely benign | Fanconi anemia | 2023-10-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722207 | SCV000727717 | likely benign | not provided | 2021-09-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000665770 | SCV000789941 | uncertain significance | Fanconi anemia complementation group C | 2017-02-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907848 | SCV004721679 | likely benign | FANCC-related condition | 2021-10-27 | 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). |
Natera, |
RCV000227769 | SCV002081204 | likely benign | Fanconi anemia | 2020-08-06 | no assertion criteria provided | clinical testing |