Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000491605 | SCV000992774 | uncertain significance | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2017-12-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000491605 | SCV003834281 | likely pathogenic | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2022-02-10 | criteria provided, single submitter | clinical testing | |
Lupski Lab, |
RCV000491605 | SCV000282196 | pathogenic | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2016-01-10 | no assertion criteria provided | research | |
Biochemical Molecular Genetic Laboratory, |
RCV000491605 | SCV001133085 | likely pathogenic | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2019-09-26 | no assertion criteria provided | clinical testing |