ClinVar Miner

Submissions for variant NM_024529.4(CDC73):c.-10G>T (rs188082584)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271289 SCV000352116 likely benign Parathyroid carcinoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321566 SCV000352117 likely benign Isolated Hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357702 SCV000352118 likely benign Hyperparathyroidism 2 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590347 SCV000699507 benign not provided 2016-04-28 criteria provided, single submitter clinical testing Variant summary: The CDC73 c.-10G>T variant affects a conserved nucleotide in the 5UTR of the gene. Mutation Taster predicts damaging outcome for this variant. This variant was found in 100/119114 control chromosomes at a frequency of 0.0008395, which is about 207 times the maximal expected frequency of a pathogenic CDC73 allele (0.0000041), suggesting this variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, based on the prevalence of this variant in general population, this variant was classified as Benign.
PreventionGenetics RCV000247723 SCV000314342 benign not specified 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.