Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228749 | SCV000291161 | likely benign | Fanconi anemia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000239243 | SCV000297343 | uncertain significance | not specified | 2015-08-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000228749 | SCV002529509 | likely benign | Fanconi anemia | 2021-03-28 | criteria provided, single submitter | curation | |
Gene |
RCV002274988 | SCV002562379 | uncertain significance | not provided | 2023-05-19 | 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 |
Prevention |
RCV003967665 | SCV004777317 | likely benign | FANCD2-related disorder | 2022-09-23 | 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). |