Question: Clinical significance ClinVar
gravatar for onemoreuser
3.7 years ago by
onemoreuser20 wrote:

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?

ADD COMMENTlink modified 3.7 years ago by Denise - Open Targets5.1k • written 3.7 years ago by onemoreuser20
gravatar for Denise - Open Targets
3.7 years ago by
UK, Hinxton, EMBL-EBI
Denise - Open Targets5.1k wrote:

"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 COMMENTlink written 3.7 years ago by Denise - Open Targets5.1k
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