Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002496234 | SCV002813873 | likely pathogenic | ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts | 2022-01-12 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002672 | SCV000022830 | pathogenic | ALG8 congenital disorder of glycosylation | 2004-07-01 | no assertion criteria provided | literature only |