Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868203 | SCV001009505 | likely benign | Fanconi anemia | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566056 | SCV001789522 | uncertain significance | not provided | 2023-08-03 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Genetic Services Laboratory, |
RCV001816983 | SCV002069558 | likely benign | not specified | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001566056 | SCV004218781 | likely benign | not provided | 2022-12-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948141 | SCV004763532 | likely benign | FANCM-related condition | 2019-04-09 | 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). |