NM_014363.6(SACS):c.10305T>C (p.Ser3435=) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Sep 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001109204.9
Allele description [Variation Report for NM_014363.6(SACS):c.10305T>C (p.Ser3435=)]
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
Condition(s)
Assertion and evidence details
Last Updated: May 19, 2024