Curation EDM1-PSACH COMP

GeneCOMP
DiseaseEDM1-PSACH
InheritanceAD
Score

10.7 + 6 = 16.7 / 18

Genetic + experimental = total

Classification
0
18
Refuted
Moderate
Definitive
Last Updated02/28/2025
Pubs Reviewed17
Publication Span26 years
Publication Interval26 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.