NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466347.1
Allele description [Variation Report for NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)]
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023