ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val)

gnomAD frequency: 0.00026  dbSNP: rs189290632
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
Invitae RCV002066334 SCV002353052 likely benign 46,XY sex reversal 6 2022-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002066334 SCV002811269 likely benign 46,XY sex reversal 6 2022-03-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943060 SCV004760011 likely benign MAP3K1-related disorder 2022-08-02 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.