NM_000284.4(PDHA1):c.867C>T (p.Tyr289=) AND PDHA1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003956083.1
Allele description [Variation Report for NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)]
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)
Condition(s)
- Name:
- PDHA1-related disorder
- Synonyms:
- PDHA1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024