ClinVar Miner

Submissions for variant NM_032801.5(JAM3):c.410-14_410-13insCT

dbSNP: rs3216140
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000600118 SCV000745007 benign Porencephaly-microcephaly-bilateral congenital cataract syndrome 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV001522755 SCV001732351 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001522755 SCV001846412 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600118 SCV000733011 likely benign Porencephaly-microcephaly-bilateral congenital cataract syndrome 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.