Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431564 | SCV000522052 | pathogenic | not provided | 2022-02-10 | 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: 34143244) |
Provincial Medical Genetics Program of British Columbia, |
RCV002065007 | SCV002320800 | likely pathogenic | Blepharophimosis - intellectual disability syndrome, MKB type | 2022-01-01 | criteria provided, single submitter | clinical testing |