ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.787-10C>A

gnomAD frequency: 0.33480  dbSNP: rs11603538
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455375 SCV000539173 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001518718 SCV001727466 benign Leukocyte adhesion deficiency 3 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001707692 SCV001936328 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707692 SCV005316794 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.