ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.405C>T (p.His135=)

gnomAD frequency: 0.00926  dbSNP: rs78810429
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
Eurofins Ntd Llc (ga) RCV000178372 SCV000230441 benign not specified 2015-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540280 SCV000647843 benign Leukocyte adhesion deficiency 3 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390901 SCV004132303 benign not provided 2022-12-01 criteria provided, single submitter clinical testing FERMT3: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003390901 SCV005316790 benign not provided criteria provided, single submitter not provided

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.