ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr) (rs121909020)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723610 SCV000110864 uncertain significance not provided 2013-04-16 criteria provided, single submitter clinical testing
OMIM RCV000007579 SCV000027780 pathogenic Cystic fibrosis 1992-06-01 no assertion criteria provided literature only
PharmGKB RCV000660774 SCV000783013 drug response ivacaftor response - Efficacy 2018-03-23 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000078995 SCV000601090 uncertain significance not specified 2016-09-11 criteria provided, single submitter clinical testing

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