NM_183050.4(BCKDHB):c.344-1G>A AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 23, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000178407.4
Allele description [Variation Report for NM_183050.4(BCKDHB):c.344-1G>A]
NM_183050.4(BCKDHB):c.344-1G>A
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Jun 10, 2023