NM_183050.4(BCKDHB):c.369A>G (p.Pro123=) AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001484467.9
Allele description [Variation Report for NM_183050.4(BCKDHB):c.369A>G (p.Pro123=)]
NM_183050.4(BCKDHB):c.369A>G (p.Pro123=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024