NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 25, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002434172.2
Allele description [Variation Report for NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)]
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Oct 13, 2024