Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626722 | SCV000747425 | likely pathogenic | Polycystic kidney disease; Hemangioma; Enlarged kidney | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003162769 | SCV003915321 | uncertain significance | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22508176, 23431072, 31740684, 22367170) |