NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Dec 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000673405.2
Allele description [Variation Report for NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)]
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024