Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502595 | SCV000593296 | likely benign | not specified | 2016-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000875246 | SCV001017541 | likely benign | not provided | 2023-07-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000875246 | SCV001822360 | likely benign | not provided | 2019-10-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960147 | SCV004767601 | likely benign | ARFGEF2-related disorder | 2019-02-22 | 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). |