Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000972974 | SCV001120707 | benign | Van der Woude syndrome 2 | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003906053 | SCV004735784 | likely benign | GRHL3-related disorder | 2019-05-03 | 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). |