ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2620-6T>C (rs371315682)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589355 SCV000342915 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589355 SCV000696913 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing Variant summary: The c.2620-6T>C variant affects a non-conserved intronic nucleotide. One in-silico tool predicts damaging outcome for this variant. However, 4/5 programs via Alamut predict that this variant does not affect normal splicing. This variant is found in 70/121596 control chromosomes including the broad and large populations from ExAC at a frequency of 0.0005684, which does not exceed the maximal expected frequency of a pathogenic allele (0.0129603) in this gene. A homozygote was also reported in ExAC. The variant has been reported in the literature in one patient with clinical manifestations consistent with CF and in a reputable database in a patient with CBAVD, neither of which provides a strong evidence for causality. Because of the absence of sufficient clinical information and the lack of functional studies, the variant has currently been classified as a variant of uncertain significance (VUS) until additional information becomes available.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000589355 SCV000780897 uncertain significance not provided 2018-03-31 criteria provided, single submitter 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.