Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000056990 | SCV000321842 | pathogenic | not provided | 2023-01-24 | 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: 31823354, 34116063, 19416275, 24611874) |
Epithelial Biology; Institute of Medical Biology, |
RCV000056990 | SCV000088103 | not provided | not provided | no assertion provided | not provided |