NM_000365.6(TPI1):c.694G>A (p.Val232Met) AND Triosephosphate isomerase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002052052.2
Allele description [Variation Report for NM_000365.6(TPI1):c.694G>A (p.Val232Met)]
NM_000365.6(TPI1):c.694G>A (p.Val232Met)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023