ClinVar Miner

Submissions for variant NM_080683.3(PTPN13):c.268C>G (p.Leu90Val)

gnomAD frequency: 0.00625  dbSNP: rs78046638
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880104 SCV001023175 benign not provided 2018-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000880104 SCV005303216 benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005392498 SCV006059536 likely benign PTPN13-related disorder 2020-06-18 criteria provided, single submitter research

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.