Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV002226437 | SCV002505562 | likely pathogenic | Tay-Sachs disease | 2022-03-22 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous._x000D_ Criteria applied: PM3, PM5, PM2_SUP, PP3 |
Institute of Medical Genetics and Applied Genomics, |
RCV002226437 | SCV002601741 | likely pathogenic | Tay-Sachs disease | 2022-11-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004108 | SCV000024274 | pathogenic | Tay-sachs disease, juvenile | 1992-01-01 | no assertion criteria provided | literature only |