Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003431348 | SCV004154663 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | ARFGEF2: BP4, BP7 |
Prevention |
RCV003901061 | SCV004712463 | likely benign | ARFGEF2-related disorder | 2021-10-29 | 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). |