Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861276 | SCV001001541 | likely benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256561 | SCV002527359 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-02 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478526 | SCV004218794 | likely benign | not provided | 2023-06-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948052 | SCV004759805 | likely benign | FANCM-related condition | 2020-04-20 | 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). |
Genetic Services Laboratory, |
RCV003151159 | SCV003839524 | likely benign | not specified | 2022-08-24 | no assertion criteria provided | clinical testing |