NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) AND Spastic ataxia 5
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Aug 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000149914.8
Allele description [Variation Report for NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)]
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)
Condition(s)
Assertion and evidence details
Last Updated: Jul 23, 2024