Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000074452 | SCV001443006 | likely pathogenic | Hereditary spastic paraplegia 55 | 2020-03-01 | criteria provided, single submitter | clinical testing | Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1_Strong,PM2,PM3,PP1 |
OMIM | RCV000074452 | SCV000108468 | pathogenic | Hereditary spastic paraplegia 55 | 2013-11-01 | no assertion criteria provided | literature only |