Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000234984 | SCV001443028 | likely pathogenic | Pontocerebellar hypoplasia, type 2F | 2020-03-01 | criteria provided, single submitter | clinical testing | Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PS3,PM2;PM3_Supporting |
OMIM | RCV000234984 | SCV000292332 | pathogenic | Pontocerebellar hypoplasia, type 2F | 2016-09-26 | no assertion criteria provided | literature only |