ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)

gnomAD frequency: 0.00067  dbSNP: rs17881753
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130295 SCV000185143 likely benign Hereditary cancer-predisposing syndrome 2015-11-13 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Invitae RCV000200179 SCV000255278 benign Neurofibromatosis, type 1 2020-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000034581 SCV000723408 likely benign not provided 2021-09-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 22703879, 27322474)
Mendelics RCV000200179 SCV000839136 uncertain significance Neurofibromatosis, type 1 2018-07-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000121631 SCV002066628 benign not specified 2019-07-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000121631 SCV002511459 likely benign not specified 2022-04-08 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000130295 SCV002527443 benign Hereditary cancer-predisposing syndrome 2021-04-02 criteria provided, single submitter curation
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034581 SCV000043387 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121631 SCV000085829 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000034581 SCV001744601 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000121631 SCV001966080 benign not specified 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.