ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1827C>A (p.Arg609=)

gnomAD frequency: 0.00004  dbSNP: rs146601680
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
Eurofins Ntd Llc (ga) RCV000178980 SCV000231166 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000178980 SCV002932134 likely benign not provided 2024-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000178980 SCV004127230 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TWNK: BP4, BP7

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.