Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727098 | SCV000705675 | pathogenic | not provided | 2017-01-13 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003016 | SCV000023174 | pathogenic | Congenital bile acid synthesis defect 1 | 2003-04-01 | no assertion criteria provided | literature only |