Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807148 | SCV000947187 | benign | Alagille syndrome due to a JAG1 point mutation | 2023-02-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975326 | SCV004787409 | likely benign | JAG1-related condition | 2021-12-10 | 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). |