Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000869716 | SCV001011166 | likely benign | Fanconi anemia | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938292 | SCV004752750 | likely benign | FANCA-related condition | 2019-07-01 | 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, |
RCV001274553 | SCV001458809 | uncertain significance | Fanconi anemia complementation group A | 2020-03-10 | no assertion criteria provided | clinical testing |