Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660140 | SCV000782134 | uncertain significance | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001469626 | SCV001673706 | likely benign | Adams-Oliver syndrome 5 | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938013 | SCV004755607 | likely benign | NOTCH1-related condition | 2023-04-10 | 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). |