Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002293435 | SCV002586467 | likely pathogenic | not provided | 2022-04-21 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 123 amino acids are replaced with 2 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26168012) |
OMIM | RCV000412554 | SCV000490315 | pathogenic | Pontocerebellar hypoplasia, type 1E | 2021-05-06 | no assertion criteria provided | literature only |