Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002109 | SCV001159956 | likely benign | Polycystic kidney disease, adult type | 2018-07-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001819715 | SCV002064172 | uncertain significance | not provided | 2023-02-07 | criteria provided, single submitter | clinical testing | Observed in a patient with familial intracranial aneurysm without features of ADPKD in published literature (Hirota et al., 2016); Reported as a likely benign variant in an individual with ADPKD in published literature (He et at., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27567292, 30333007) |