NM_000709.4(BCKDHA):c.647-18C>T AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002775521.2
Allele description [Variation Report for NM_000709.4(BCKDHA):c.647-18C>T]
NM_000709.4(BCKDHA):c.647-18C>T
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024