Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001565947 | SCV001789397 | likely benign | not provided | 2020-05-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001565947 | SCV002392255 | likely benign | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948603 | SCV004759661 | likely benign | ARFGEF2-related disorder | 2024-01-03 | 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). |