Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000049808 | SCV000026334 | pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 2002-10-08 | no assertion criteria provided | literature only | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049808 | SCV000082217 | probable-pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
Gene |
RCV000049808 | SCV000223804 | not provided | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | no assertion provided | literature only |