ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=)

gnomAD frequency: 0.00001  dbSNP: rs536366837
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289021 SCV001476517 benign not specified 2019-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515930 SCV001724114 benign Early infantile epileptic encephalopathy with suppression bursts 2024-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001638054 SCV001851702 benign not provided 2019-12-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638054 SCV005311257 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.