Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001474094 | SCV001678260 | likely benign | Fanconi anemia | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003921003 | SCV004732692 | likely benign | SLX4-related disorder | 2023-09-20 | 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). |