Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000891379 | SCV001035195 | likely benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950391 | SCV004765513 | likely benign | GFM1-related disorder | 2020-03-13 | 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, |
RCV001272462 | SCV001454461 | likely benign | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2020-04-23 | no assertion criteria provided | clinical testing |