Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459088 | SCV000558658 | likely benign | Fanconi anemia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496823 | SCV002811438 | likely benign | Fanconi anemia complementation group P | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960070 | SCV004774900 | likely benign | SLX4-related disorder | 2019-09-09 | 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). |