Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000049355 | SCV002778386 | likely pathogenic | Aspartylglucosaminuria | 2022-02-22 | criteria provided, single submitter | clinical testing | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049355 | SCV000081787 | probable-pathogenic | Aspartylglucosaminuria | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |