NM_002225.5(IVD):c.457-7C>T AND Isovaleryl-CoA dehydrogenase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001481576.6
Allele description [Variation Report for NM_002225.5(IVD):c.457-7C>T]
NM_002225.5(IVD):c.457-7C>T
Condition(s)
- Name:
- Isovaleryl-CoA dehydrogenase deficiency (IVA)
- Synonyms:
- Isovaleric acid CoA dehydrogenase deficiency; Isovaleric acidemia; Isovaleryl CoA carboxylase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009475; MedGen: C0268575; Orphanet: 33; OMIM: 243500
Assertion and evidence details
Last Updated: Feb 28, 2024