Curation EDM1-PSACH COMP

Gene COMP
Disease EDM1-PSACH
Inheritance AD
Score

10.7 + 6 = 16.7 / 18

Genetic + experimental = total
Classification
0
18
Refuted
Moderate
Definitive
Last Updated 02/28/2025
Pubs Reviewed 17
Publication Span 26 years
Publication Interval 26 years
Curator(s) Skeletal Disorders GCEP
Description

Disease: COMP-related skeletal dysplasia https://search.clinicalgenome.org/CCID:008836

All criTRia Curations Locus Page

Genetic evidence

Total: 10.7

No genetic evidence details available.

Experimental evidence

Total: 6

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.