Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001571346 | SCV001795799 | likely benign | not provided | 2018-06-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001571346 | SCV002953438 | likely benign | not provided | 2022-10-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948614 | SCV004766422 | likely benign | ARFGEF2-related disorder | 2022-09-07 | 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). |