ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) (rs1800135)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079006 SCV000110875 benign not specified 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV000203821 SCV000261830 benign Cystic fibrosis 2020-12-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079006 SCV000304498 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095182 SCV000466529 uncertain significance CFTR-related disorders 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281815 SCV000602995 benign none provided 2020-08-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000079006 SCV000888096 benign not specified 2019-08-27 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000203821 SCV001167253 benign Cystic fibrosis 2019-10-30 criteria provided, single submitter clinical testing
CFTR-France RCV000203821 SCV001169187 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001022191 SCV001183894 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
Pars Genome Lab RCV000203821 SCV001652866 benign Cystic fibrosis 2021-05-18 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000203821 SCV001338809 likely benign Cystic fibrosis 2019-04-09 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.