ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.558C>T (p.Arg186=)

gnomAD frequency: 0.00105  dbSNP: rs2275135
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000960157 SCV000513448 likely benign not provided 2020-10-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000441572 SCV000595536 likely benign not specified 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV000960157 SCV001107110 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488881 SCV002795861 likely benign Occipital pachygyria and polymicrogyria 2022-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960157 SCV004156547 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing LAMC3: BP4, BP7

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.