ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) (rs397508759)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577109 SCV000679503 not provided Cystic fibrosis no assertion provided literature only
Mendelics RCV000577109 SCV000886299 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
PharmGKB RCV000660831 SCV000783070 drug response ivacaftor response - Efficacy 2018-03-22 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.

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