ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)

gnomAD frequency: 0.00535  dbSNP: rs6828134
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000631883 SCV000752982 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001576624 SCV001474420 benign not provided 2023-08-21 criteria provided, single submitter clinical testing
GeneDx RCV001576624 SCV001803851 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279452 SCV002566934 likely benign Connective tissue disorder 2019-05-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001576624 SCV005256725 likely benign not provided criteria provided, single submitter not provided

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.