ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.1767G>T (p.Arg589=)

gnomAD frequency: 0.00160  dbSNP: rs138100080
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886684 SCV001030204 benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001166778 SCV001329190 likely benign Neonatal diabetes mellitus with congenital hypothyroidism 2017-11-16 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.
Breakthrough Genomics, Breakthrough Genomics RCV000886684 SCV005225313 likely 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.