Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000201262 | SCV001443057 | likely pathogenic | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 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_Supporting |
Gene |
RCV002510816 | SCV002820749 | likely pathogenic | not provided | 2022-07-11 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation as the last 10 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25251209) |
OMIM | RCV000201262 | SCV000255994 | pathogenic | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2014-12-01 | no assertion criteria provided | literature only |