NM_014363.6(SACS):c.171+1G>A AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466330.3
Allele description [Variation Report for NM_014363.6(SACS):c.171+1G>A]
NM_014363.6(SACS):c.171+1G>A
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025