Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513191 | SCV000608596 | likely pathogenic | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000674877 | SCV000800284 | uncertain significance | Bardet-Biedl syndrome 1 | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001199648 | SCV001162412 | pathogenic | Retinitis pigmentosa | 2020-01-09 | criteria provided, single submitter | research |