ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.2700C>T (p.Ser900=)

gnomAD frequency: 0.00154  dbSNP: rs35648144
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000545903 SCV000655252 benign Developmental and epileptic encephalopathy, 23 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001764622 SCV001989573 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000545903 SCV004178451 likely benign Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001764622 SCV005256300 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.