Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878136 | SCV001020992 | benign | Van der Woude syndrome 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948267 | SCV004774324 | likely benign | GRHL3-related disorder | 2019-04-09 | 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). |