Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194260 | SCV000246475 | likely benign | not specified | 2015-10-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000487507 | SCV000575314 | uncertain significance | not provided | 2016-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000487507 | SCV001018060 | likely benign | not provided | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927761 | SCV004744241 | likely benign | ARFGEF2-related disorder | 2019-10-28 | 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). |