NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe) AND Maple syrup urine disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001349186.6
Allele description [Variation Report for NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe)]
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024