Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV001249098 | SCV001422381 | likely pathogenic | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001249098 | SCV004169258 | uncertain significance | not provided | 2023-05-09 | 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: 35314260, 27991905, 37028763, 27071085, 28154010, 29973168, 33437033, 33102977, 14993477) |