ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.219C>T (p.Pro73=)

gnomAD frequency: 0.00143  dbSNP: rs148240352
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117566 SCV000151785 uncertain significance not provided 2012-11-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000173431 SCV000224546 likely benign not specified 2014-09-17 criteria provided, single submitter clinical testing
Invitae RCV000117566 SCV001001116 likely benign not provided 2023-10-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000117566 SCV001144468 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000117566 SCV004162348 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing MAGI2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003952572 SCV004767392 likely benign MAGI2-related condition 2019-10-14 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.