Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000916178 | SCV001061411 | likely benign | Adams-Oliver syndrome 5 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585867 | SCV001820763 | likely benign | not provided | 2018-10-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000916178 | SCV002555040 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271113 | SCV002555041 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543437 | SCV004784817 | likely benign | NOTCH1-related disorder | 2021-06-15 | 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). |