Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002173006 | SCV002335889 | likely benign | RFT1-congenital disorder of glycosylation | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950890 | SCV004775414 | likely benign | RFT1-related disorder | 2019-07-12 | 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). |