NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu) AND Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001802648.7
Allele description [Variation Report for NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu)]
NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023