ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.166G>A (p.Glu56Lys) (rs397508256)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046399 SCV000245908 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000046399 SCV000794273 likely pathogenic Cystic fibrosis 2017-10-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000046399 SCV000696860 likely pathogenic Cystic fibrosis 2016-02-02 criteria provided, single submitter clinical testing
PharmGKB RCV000660826 SCV000783065 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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