ClinVar Miner

Submissions for variant NM_001080463.1(DYNC2H1):c.9960T>C (p.Ala3320=) (rs192003811)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756052 SCV000883763 benign not provided 2017-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727890 SCV000855395 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380832 SCV000366791 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269938 SCV000366792 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000269938 SCV000630960 benign Jeune thoracic dystrophy 2017-04-27 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.