NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) AND Spinocerebellar ataxia type 5
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000677650.4
Allele description [Variation Report for NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)]
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024