ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.2308C>G (p.Arg770Gly)

dbSNP: rs3739510
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711285 SCV001939628 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000614843 SCV001981284 benign Occipital pachygyria and polymicrogyria 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711285 SCV002341223 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711285 SCV005323041 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117463 SCV000151681 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614843 SCV000734659 benign Occipital pachygyria and polymicrogyria no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000117463 SCV001971973 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.