Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001816442 | SCV002062704 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | HIVEP2: BP4, BP7 |
Invitae | RCV001816442 | SCV003290750 | benign | not provided | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004542119 | SCV004782741 | benign | HIVEP2-related disorder | 2020-01-24 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |