Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626646 | SCV000747348 | pathogenic | Cafe-au-lait spot | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000660070 | SCV000782039 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001532343 | SCV001747863 | pathogenic | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000660070 | SCV002560098 | likely pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |