Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002539207 | SCV001018215 | likely benign | Fanconi anemia | 2022-09-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975478 | SCV004790296 | likely benign | SLX4-related disorder | 2019-04-30 | 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). |