NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln) AND Maple syrup urine disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002686353.2
Allele description [Variation Report for NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)]
NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024