Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Arab Genomic Studies, |
RCV000590856 | SCV000693882 | likely pathogenic | RFT1-congenital disorder of glycosylation | 2017-07-15 | criteria provided, single submitter | clinical testing | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000590856 | SCV000746182 | likely pathogenic | RFT1-congenital disorder of glycosylation | 2017-11-23 | no assertion criteria provided | clinical testing |