Curation ADTKD MUC1

GeneMUC1
DiseaseADTKD
InheritanceAD
Score

12 + 4 = 16 / 18

Genetic + experimental = total

Classification
0
18
Refuted
Moderate
Definitive
Last Updated01/13/2021
Pubs Reviewed–
Publication Span–
Publication Interval–
Curator(s)Kidney Cystic and Ciliopathy Disorders GCEP
Description

Gene curation by ClinGen: https://search.clinicalgenome.org/CCID:005506

All criTRia Curations Locus Page

Genetic evidence

Total:12

No genetic evidence details available.

Experimental evidence

Total:4

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.