Curation CANVAS RFC1
Gene RFC1
Disease CANVAS
Inheritance AR
Score
12 + 2 = 14 / 18
Genetic + experimental = total
Classification Definitive
0
18
Refuted
Moderate
Definitive
Last Updated 10/09/2024
Pubs Reviewed –
Publication Span –
Publication Interval –
Curator(s) Cerebellar Ataxia GCEP
Description
Genetic evidence
Total: 12
No genetic evidence details available.
Experimental evidence
Total: 2
No experimental evidence details available.
Maximum score caps apply at evidence type, category, and supercategory
levels, so section totals may be lower than the raw sum of row scores.