NM_000709.4(BCKDHA):c.675G>T (p.Arg225=) AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002206166.6
Allele description [Variation Report for NM_000709.4(BCKDHA):c.675G>T (p.Arg225=)]
NM_000709.4(BCKDHA):c.675G>T (p.Arg225=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024