Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081186 | SCV000113094 | uncertain significance | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
RCV000006225 | SCV000680292 | likely pathogenic | MPDU1-congenital disorder of glycosylation | 2017-12-09 | criteria provided, single submitter | clinical testing | |
Suma Genomics | RCV000006225 | SCV003762224 | uncertain significance | MPDU1-congenital disorder of glycosylation | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000006225 | SCV000026407 | pathogenic | MPDU1-congenital disorder of glycosylation | 2001-12-01 | no assertion criteria provided | literature only |