Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116396 | SCV000150320 | benign | not specified | 2014-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000874498 | SCV001016682 | likely benign | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952563 | SCV004771307 | likely benign | ARFGEF2-related disorder | 2022-05-02 | 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). |