ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=)

gnomAD frequency: 0.00001  dbSNP: rs765040215
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
CeGaT Center for Human Genetics Tuebingen RCV000416260 SCV000493518 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV001084100 SCV001016341 likely benign CHARGE association 2023-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897836 SCV004708416 likely benign SEMA3E-related condition 2023-02-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.