Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525513 | SCV000626439 | benign | Fanconi anemia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000525513 | SCV002529353 | likely benign | Fanconi anemia | 2021-12-07 | criteria provided, single submitter | curation | |
Ce |
RCV003419921 | SCV004144895 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | SLX4: BP4, BP7 |
Prevention |
RCV003962464 | SCV004778042 | benign | SLX4-related disorder | 2019-09-16 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genetic Services Laboratory, |
RCV003151084 | SCV003840062 | likely benign | not specified | 2022-12-14 | no assertion criteria provided | clinical testing |