ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3718-2477C>G (rs75039782)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000417151 SCV000494721 drug response ataluren response - Efficacy 2016-03-23 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

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