Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487862 | SCV000575607 | likely pathogenic | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000487862 | SCV004170607 | likely pathogenic | not provided | 2023-10-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34258140, 24566669) |