Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719048 | SCV000727727 | likely benign | not provided | 2020-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003586204 | SCV004300752 | benign | Adams-Oliver syndrome 5 | 2022-11-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533242 | SCV004726041 | likely benign | NOTCH1-related disorder | 2022-11-08 | 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). |