ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4986C>T (p.His1662=)

gnomAD frequency: 0.00006  dbSNP: rs139082993
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
GeneDx RCV001704730 SCV000715257 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001428618 SCV001631319 likely benign Developmental and epileptic encephalopathy 94 2024-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704730 SCV004130959 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CHD2: 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.