Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087106 | SCV000829144 | likely benign | Nephronophthisis | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732297 | SCV000860230 | uncertain significance | not provided | 2018-03-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000732297 | SCV001991795 | uncertain significance | not provided | 2019-03-13 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |