NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr) AND Spinocerebellar ataxia type 5
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001027673.4
Allele description [Variation Report for NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)]
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024