Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000873436 | SCV001150765 | likely benign | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002064729 | SCV002439620 | likely benign | Fanconi anemia | 2022-09-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975452 | SCV004787754 | likely benign | SLX4-related disorder | 2019-03-22 | 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). |