Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176217 | SCV000227834 | uncertain significance | not provided | 2017-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085756 | SCV001131893 | likely benign | Nephronophthisis | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000176217 | SCV001992226 | uncertain significance | not provided | 2019-05-01 | 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 |