NM_001258392.3(CLPB):c.1067-20T>C AND 3-methylglutaconic aciduria, type VIIB
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003750453.1
Allele description [Variation Report for NM_001258392.3(CLPB):c.1067-20T>C]
NM_001258392.3(CLPB):c.1067-20T>C
Condition(s)
- Name:
- 3-methylglutaconic aciduria, type VIIB (MGCA7B)
- Synonyms:
- 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
- Identifiers:
- MONDO: MONDO:0014561; MedGen: C5676893; Orphanet: 445038; OMIM: 616271
Assertion and evidence details
Last Updated: Feb 28, 2024