ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3744del (p.Lys1250fs) (rs121908784)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007653 SCV000071481 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000076 SCV000883588 pathogenic not specified 2019-02-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755920 SCV000888090 pathogenic not provided 2015-08-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004505 SCV001163550 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000007653 SCV001194220 pathogenic Cystic fibrosis 2019-11-20 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.3744delA(K1250Rfs*9, aka 3876delA) is classified as pathogenic in the context of cystic fibrosis and is associated with the classic form of this disease. Sources cited for classification include the following: PMID 23974870. Classification of NM_000492.3(CFTR):c.3744delA(K1250Rfs*9, aka 3876delA) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
Johns Hopkins Genomics,Johns Hopkins University RCV000007653 SCV001371795 pathogenic Cystic fibrosis 2020-01-07 criteria provided, single submitter clinical testing Disease-causing CFTR variant (previously reported for this patient by mass spectrometry genotyping). See for phenotype information.
OMIM RCV000007653 SCV000027854 pathogenic Cystic fibrosis 2000-03-01 no assertion criteria provided literature only

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.