ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg)

gnomAD frequency: 0.00001  dbSNP: rs148287864
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
Baylor Genetics RCV001334897 SCV001527888 uncertain significance Developmental and epileptic encephalopathy, 23 2018-08-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001334897 SCV001596575 likely benign Developmental and epileptic encephalopathy, 23 2024-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003442853 SCV004167761 uncertain significance not provided 2023-04-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.