Clinical significance ClinVar
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8.2 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 • 2.5k views
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Entering edit mode
8.2 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.

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