Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002098984 | SCV002432769 | likely benign | RFT1-congenital disorder of glycosylation | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003951168 | SCV004771308 | likely benign | RFT1-related disorder | 2020-01-07 | 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). |