Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000050018 | SCV000793977 | likely pathogenic | Muscle eye brain disease | 2017-09-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004206 | SCV000024372 | pathogenic | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 2008-01-01 | no assertion criteria provided | literature only | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000050018 | SCV000082427 | probable-pathogenic | Muscle eye brain disease | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |