NM_000709.4(BCKDHA):c.854-2A>G AND Maple syrup urine disease
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001379040.8
Allele description [Variation Report for NM_000709.4(BCKDHA):c.854-2A>G]
NM_000709.4(BCKDHA):c.854-2A>G
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024