NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003467581.1
Allele description [Variation Report for NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)]
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024