Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001706715 | SCV001934469 | pathogenic | Bohring-Opitz syndrome | 2021-03-05 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |
Ce |
RCV001726412 | SCV001962380 | pathogenic | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | ASXL1: PVS1:Strong, PM2, PS2:Moderate, PS4:Moderate |
NIHR Bioresource Rare Diseases, |
RCV001003812 | SCV001162262 | pathogenic | Juvenile myelomonocytic leukemia; Cafe-au-lait spot | no assertion criteria provided | research |