Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194983 | SCV000246464 | uncertain significance | not specified | 2014-05-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907673 | SCV004724859 | likely benign | ARFGEF2-related disorder | 2019-06-18 | 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). |