Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000991307 | SCV000926050 | likely pathogenic | Renal cysts and diabetes syndrome | 2019-07-06 | criteria provided, single submitter | literature only | |
Molecular Diagnostics Laboratory, |
RCV000991307 | SCV001142711 | likely pathogenic | Renal cysts and diabetes syndrome | 2019-05-29 | criteria provided, single submitter | clinical testing | |
Molecular Biology Laboratory, |
RCV000991307 | SCV001425093 | likely pathogenic | Renal cysts and diabetes syndrome | 2020-02-01 | criteria provided, single submitter | research | |
Gene |
RCV003156290 | SCV003845516 | likely pathogenic | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15509593, 30754209, 25700310, 33532864, 17924661, 15068978, 15930087) |