NM_183050.4(BCKDHB):c.634-2A>G AND Maple syrup urine disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003465175.3
Allele description [Variation Report for NM_183050.4(BCKDHB):c.634-2A>G]
NM_183050.4(BCKDHB):c.634-2A>G
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024