Clinical significance ClinVar
1
0
Entering edit mode
6.4 years ago
onemoreuser ▴ 20

I searched in ClinVar documentation but I didn't find anything that explains what means a clinical significance "association". The variant is associated with a condition, right? But does it say if it's pathogenic or benign?

clinvar clinical significance • 2.1k views
ADD COMMENT
2
Entering edit mode
6.4 years ago
Denise CS ★ 5.2k

"Association" is used 'For variants identified in a GWAS study and further interpreted for their clinical significance.' according to the ClinVar docs. I believe it's yet unknown whether the variant is pathogenic or not. If it was known, the clinical significance would have been "pathogenic" or "benign", I reckon.

ADD COMMENT

Login before adding your answer.

Traffic: 1600 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6