Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000049994 | SCV000487220 | pathogenic | Muscle eye brain disease | 2016-10-28 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics |
RCV000782031 | SCV000920497 | pathogenic | not provided | 2018-07-19 | criteria provided, single submitter | clinical testing | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049994 | SCV000082403 | probable-pathogenic | Muscle eye brain disease | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |