ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) (rs80282562)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056394 SCV000071500 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056394 SCV000485227 pathogenic Cystic fibrosis 2015-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763153 SCV000893740 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 2018-10-31 criteria provided, single submitter clinical testing
PharmGKB RCV000211246 SCV000268409 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 RCV000508034 SCV000601125 pathogenic not provided 2017-05-21 criteria provided, single submitter clinical testing

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