Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000981961 | SCV001129970 | likely benign | not provided | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000981961 | SCV001791857 | likely benign | not provided | 2020-05-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003936228 | SCV004751522 | likely benign | TYMP-related disorder | 2019-06-06 | 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). |
Natera, |
RCV001836052 | SCV002081630 | likely benign | Mitochondrial neurogastrointestinal encephalomyopathy | 2020-04-03 | no assertion criteria provided | clinical testing |