Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697453 | SCV000717468 | likely benign | not provided | 2019-07-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002063076 | SCV002365795 | likely benign | Adams-Oliver syndrome 5 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002063076 | SCV002553768 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270751 | SCV002553770 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498910 | SCV002813019 | likely benign | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2022-03-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892333 | SCV004713324 | likely benign | NOTCH1-related condition | 2022-03-31 | 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). |