ClinVar Miner

Submissions for variant NM_017721.4(CC2D1A):c.1739C>T (p.Thr580Ile) (rs202057391)

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
Ambry Genetics RCV000717301 SCV000848150 likely benign History of neurodevelopmental disorder 2017-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Other strong data
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224917 SCV000281291 likely benign not provided 2016-01-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago RCV000116590 SCV000150553 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000785141 SCV000923703 uncertain significance Mental retardation, autosomal recessive 3 2019-01-01 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine RCV000491268 SCV000299209 pathogenic Smith-Magenis Syndrome-like 2016-08-15 criteria provided, single submitter research

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.