NC_000023.10:g.(?_153641545)_(153648084_?)dup AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003119322.3
Allele description [Variation Report for NC_000023.10:g.(?_153641545)_(153648084_?)dup]
NC_000023.10:g.(?_153641545)_(153648084_?)dup
Condition(s)
- Name:
- 3-Methylglutaconic aciduria type 2 (BTHS)
- Synonyms:
- Barth syndrome; 3-methylglutaconicaciduria type II; MGA type II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010543; MedGen: C0574083; Orphanet: 111; OMIM: 302060
Assertion and evidence details
Last Updated: Nov 11, 2023