ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) (rs1800112)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078993 SCV000110862 benign not specified 2012-12-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224628 SCV000281423 likely benign not provided 2015-12-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000029515 SCV000285002 likely benign Cystic fibrosis 2020-12-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078993 SCV000304487 benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000078993 SCV000601087 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283243 SCV000603024 benign none provided 2020-06-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224628 SCV000889306 likely benign not provided 2019-09-18 criteria provided, single submitter clinical testing
Mendelics RCV000029515 SCV001137491 benign Cystic fibrosis 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224628 SCV001155240 likely benign not provided 2018-01-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000029515 SCV001167225 benign Cystic fibrosis 2019-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018529 SCV001179778 benign Inborn genetic diseases 2015-01-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV001163494 SCV001325541 likely benign CFTR-related disorders 2017-08-17 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029515 SCV000052166 benign Cystic fibrosis 2014-03-18 no assertion criteria provided clinical testing

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