ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) (rs1800076)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116686 SCV000110853 likely benign not specified 2017-08-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116686 SCV000150650 likely benign not specified 2016-06-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000116686 SCV000204215 benign not specified 2014-02-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116686 SCV000304479 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095213 SCV000466502 likely benign CFTR-related disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000029494 SCV000562313 benign Cystic fibrosis 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000116686 SCV000601071 uncertain significance not specified 2017-04-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000116686 SCV000602979 likely benign not specified 2018-07-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513754 SCV000609754 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513754 SCV001155236 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
CFTR-France RCV000029494 SCV001169171 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001014924 SCV001175697 benign Inborn genetic diseases 2014-12-01 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Integrated Genetics/Laboratory Corporation of America RCV000029494 SCV000052145 benign Cystic fibrosis 2014-02-22 no assertion criteria provided clinical testing
GeneReviews RCV000119039 SCV000153745 pathogenic Hereditary pancreatitis 2014-03-13 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000582582 SCV000692319 uncertain significance Lung disease, non-specific 2015-05-14 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001249413 SCV001423414 not provided Abnormality of the pancreas no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02-10-2019 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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