Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001539491 | SCV001757277 | pathogenic | not provided | 2021-03-23 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31096240, 23014460) |
Fulgent Genetics, |
RCV002493369 | SCV002786720 | pathogenic | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000735730 | SCV000863883 | pathogenic | Focal segmental glomerulosclerosis 5 | 2018-05-17 | no assertion criteria provided | clinical testing |