Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862441 | SCV001002951 | benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816946 | SCV002065355 | likely benign | not specified | 2017-11-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000862441 | SCV002534950 | likely benign | Fanconi anemia | 2021-04-23 | criteria provided, single submitter | curation | |
Prevention |
RCV003928344 | SCV004740449 | likely benign | FANCA-related disorder | 2019-12-26 | 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, |
RCV000862441 | SCV002090785 | likely benign | Fanconi anemia | 2019-11-11 | no assertion criteria provided | clinical testing |