Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471311 | SCV000558668 | benign | Fanconi anemia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821337 | SCV002068038 | benign | not specified | 2021-05-26 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316603 | SCV004015506 | benign | Fanconi anemia complementation group P | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424031 | SCV004144914 | benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SLX4: BP4, BS1, BS2 |
Prevention |
RCV003960071 | SCV004769626 | benign | SLX4-related disorder | 2020-02-19 | 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). |