NM_000709.4(BCKDHA):c.843C>T (p.Gly281=) AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000887176.8
Allele description [Variation Report for NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)]
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024