Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002594599 | SCV002953990 | likely benign | not provided | 2022-10-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003971339 | SCV004780352 | likely benign | ARFGEF2-related disorder | 2022-04-19 | 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). |