Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV002465377 | SCV002760039 | likely pathogenic | Mowat-Wilson syndrome | 2022-11-29 | criteria provided, single submitter | research | |
Medical Genetics Unit, |
RCV002465377 | SCV004231879 | likely pathogenic | Mowat-Wilson syndrome | 2023-10-20 | criteria provided, single submitter | clinical testing | Heterozygous missense variant associated with Mowat-Wilson syndrome in at least 1 individual. ACMG/AMP criteria PS2, PM1, PM2, PP4 |