Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036025 | SCV001199368 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002269330 | SCV002553003 | uncertain significance | not provided | 2022-07-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001036025 | SCV001455246 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-06-13 | no assertion criteria provided | clinical testing |