Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088406 | SCV000626360 | likely benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000538182 | SCV001149208 | uncertain significance | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000538182 | SCV002000822 | uncertain significance | not provided | 2023-03-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000538182 | SCV004218738 | likely benign | not provided | 2022-08-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942730 | SCV004765545 | likely benign | FANCM-related condition | 2023-02-28 | 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). |