Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703814 | SCV000523916 | likely benign | not provided | 2020-03-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001504535 | SCV001709417 | likely benign | Congenital disorder of deglycosylation | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897881 | SCV004719331 | likely benign | NGLY1-related condition | 2020-01-03 | 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). |