NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=) AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003635750.2
Allele description [Variation Report for NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=)]
NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024