Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000050004 | SCV000220820 | likely pathogenic | Muscle eye brain disease | 2014-10-20 | criteria provided, single submitter | literature only | |
OMIM | RCV000004198 | SCV000024364 | pathogenic | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | 2001-11-01 | no assertion criteria provided | literature only | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000050004 | SCV000082413 | probable-pathogenic | Muscle eye brain disease | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |