ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) (rs121908753)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007619 SCV000071522 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
PharmGKB RCV000660773 SCV000783012 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.
Counsyl RCV000007619 SCV000485221 pathogenic Cystic fibrosis 2016-02-02 criteria provided, single submitter clinical testing
Mendelics RCV000007619 SCV000886259 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763568 SCV000894407 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2018-10-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985669 SCV001134107 pathogenic not provided 2019-04-13 criteria provided, single submitter clinical testing The best available variant frequency is uninformative. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Occurs in multiple cases with a recessive pathogenic variant in the same gene. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Baylor Genetics RCV001004254 SCV001163130 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV000007619 SCV001169460 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
OMIM RCV000007619 SCV000027820 pathogenic Cystic fibrosis 1993-01-01 no assertion criteria provided literature only

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