Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002057052 | SCV002448443 | likely benign | Fanconi anemia | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955233 | SCV004784685 | likely benign | SLX4-related disorder | 2023-01-26 | 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). |