Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500276 | SCV000593309 | uncertain significance | not specified | 2016-05-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902759 | SCV004727404 | likely benign | ARFGEF2-related disorder | 2019-03-01 | 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). |