Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000790681 | SCV000231028 | pathogenic | not provided | 2013-08-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000178862 | SCV000631889 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2019-08-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu169Aspfs*11) in the IVD gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs398123684, ExAC 0.004%). This variant has not been reported in the literature in individuals with a IVD-related disease. ClinVar contains an entry for this variant (Variation ID: 94056). Loss-of-function variants in IVD are known to be pathogenic (PMID: 23587913, 10677295). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000178862 | SCV001163383 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | criteria provided, single submitter | clinical testing | ||
Counsyl | RCV000178862 | SCV001132235 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2014-01-02 | no assertion criteria provided | clinical testing |