Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:

Currentness:

COMP CP229YS

(COMP 229_230delCPinsYS)

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

GeneTests

GeneTests records for the COMP gene
Multiple Epiphyseal Dysplasia, Dominant
COMP-Related Multiple Epiphyseal Dysplasia
Pseudoachondroplasia
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COMP