ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser)

gnomAD frequency: 0.00063  dbSNP: rs555920534
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 RCV000499439 SCV000595676 uncertain significance not specified 2015-11-09 criteria provided, single submitter clinical testing
Invitae RCV000865075 SCV001005980 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000865075 SCV004131402 benign not provided 2023-05-01 criteria provided, single submitter clinical testing MAGEL2: BS1, BS2
Clinical Genetics, Academic Medical Center RCV000865075 SCV001918684 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000865075 SCV001931159 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000865075 SCV001972790 likely benign not provided no assertion criteria provided clinical testing

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.