ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.1093-9C>A (rs12301915)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033525 SCV000057430 poly Rasopathy criteria provided, single submitter clinical testing Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037605 SCV000058281 benign not specified 2013-03-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037605 SCV000061266 benign not specified 2007-08-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000037605 SCV000206750 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037605 SCV000309200 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390906 SCV000376329 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000157023 SCV000376330 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341657 SCV000376331 likely benign Metachondromatosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000857433 SCV000560643 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000037605 SCV000207667 benign not specified 2015-01-15 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.