Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003709604 | SCV004473434 | benign | not provided | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004542215 | SCV004769462 | likely benign | HIVEP2-related disorder | 2019-07-15 | 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). |