Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001429080 | SCV001631791 | likely benign | Fanconi anemia | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003899969 | SCV004712239 | likely benign | SLX4-related condition | 2023-07-27 | 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). |