Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861812 | SCV001002215 | likely benign | Fanconi anemia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV002478951 | SCV002010175 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000861812 | SCV002535027 | likely benign | Fanconi anemia | 2021-02-18 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002478951 | SCV002774150 | likely benign | not provided | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002478951 | SCV004143593 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | FANCA: BP4, BP7 |
Prevention |
RCV003928338 | SCV004737733 | likely benign | FANCA-related condition | 2019-09-13 | 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, |
RCV001274555 | SCV001458811 | uncertain significance | Fanconi anemia complementation group A | 2020-01-17 | no assertion criteria provided | clinical testing |