Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624560 | SCV000742036 | pathogenic | Inborn genetic diseases | 2016-11-30 | criteria provided, single submitter | clinical testing | |
Yale Center for Mendelian Genomics, |
RCV001849414 | SCV002106830 | likely pathogenic | Spastic paraplegia | 2020-10-01 | no assertion criteria provided | literature only |