Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631020 | SCV000752000 | likely benign | Fanconi anemia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507060 | SCV002808134 | likely benign | Fanconi anemia complementation group P | 2021-12-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905687 | SCV004723777 | likely benign | SLX4-related disorder | 2019-07-30 | 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). |