ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) (rs63751100)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000084481 SCV000343352 uncertain significance not provided 2016-07-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764131 SCV000895104 uncertain significance Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000764131 SCV001019445 likely benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001122276 SCV001280989 likely benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
VIB Department of Molecular Genetics, University of Antwerp RCV000084481 SCV000116617 not provided not provided no assertion provided 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.