Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878892 | SCV001021879 | likely benign | not provided | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001817057 | SCV002067862 | likely benign | not specified | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948278 | SCV004757071 | likely benign | ARFGEF2-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). |