Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000889364 | SCV001033041 | benign | 2-aminoadipic 2-oxoadipic aciduria | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957922 | SCV004772619 | likely benign | DHTKD1-related disorder | 2019-02-19 | no assertion criteria provided | 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). |