NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) AND Spinocerebellar ataxia type 28
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Jun 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000031941.8
Allele description [Variation Report for NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)]
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024