ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1210-34_1210-33TG[12] (rs3832534)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156213 SCV000197435 benign not specified 2018-05-25 criteria provided, single submitter clinical testing The c.1210-34TG[12]T[7] allele in intron 9 of the CFTR gene is classified as be nign because it has been identified in 43% (6544/15040) of East Asian chromosome s in the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs3832534). 930 homozygotes have also been identfied in the gnomAD databas e. ACMG/AMP Criteria applied: BA1
GeneDx RCV000837302 SCV000979154 benign not provided 2018-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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.