Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000049980 | SCV004204341 | pathogenic | Mulibrey nanism syndrome | 2022-05-09 | criteria provided, single submitter | clinical testing | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049980 | SCV000082389 | probable-pathogenic | Mulibrey nanism syndrome | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |