Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Center for Mendelian Genomics, |
RCV001258026 | SCV001434840 | likely pathogenic | MN1 C-terminal truncation (MCTT) syndrome | no assertion criteria provided | research |