Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000893219 | SCV001037137 | likely benign | Congenital disorder of deglycosylation | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957989 | SCV004775600 | likely benign | NGLY1-related condition | 2020-02-17 | 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). |