Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862982 | SCV001003565 | benign | Fanconi anemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816952 | SCV002065288 | likely benign | not specified | 2019-06-26 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000862982 | SCV002534912 | benign | Fanconi anemia | 2020-10-23 | criteria provided, single submitter | curation | |
Prevention |
RCV003975391 | SCV004794077 | likely benign | FANCA-related condition | 2019-10-11 | 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, |
RCV001274151 | SCV001457955 | benign | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |