NM_000143.4(FH):c.1292C>T (p.Thr431Ile) AND Fumarase deficiency
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Jul 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000543314.9
Allele description [Variation Report for NM_000143.4(FH):c.1292C>T (p.Thr431Ile)]
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)
Condition(s)
Assertion and evidence details
Last Updated: Jul 15, 2024