Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000324880 | SCV000345564 | uncertain significance | not provided | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059305 | SCV002416889 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957521 | SCV004783264 | likely benign | JAG1-related condition | 2021-08-02 | 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). |