NM_183050.4(BCKDHB):c.33A>T (p.Leu11=) AND Maple syrup urine disease type 1B
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 17, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001273118.1
Allele description [Variation Report for NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)]
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024