Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000787123 | SCV000926052 | pathogenic | Renal cysts and diabetes syndrome | 2019-07-06 | criteria provided, single submitter | literature only | |
Gene |
RCV003106061 | SCV003761880 | likely pathogenic | not provided | 2023-01-23 | criteria provided, single submitter | clinical testing | Not observed 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: 25536396, 23979948, 16249435, 25500806, 24476040, 20378641, 31825128, 27913849, 25700310, 24897035, 22034641, 36522156) |