Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Medicine Lab, |
RCV001007913 | SCV001167622 | uncertain significance | Atrial septal defect; Congenital diaphragmatic hernia | 2018-12-06 | criteria provided, single submitter | clinical testing | |
University of Washington Center for Mendelian Genomics, |
RCV001258022 | SCV001434836 | likely pathogenic | MN1 C-terminal truncation (MCTT) syndrome | no assertion criteria provided | research |