ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1745G>A (p.Arg582His)

dbSNP: rs34588967
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431340 SCV000511552 likely benign not provided 2016-09-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000431340 SCV001114543 benign not provided 2021-12-15 criteria provided, single submitter clinical testing
Mendelics RCV000988395 SCV001138097 benign Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000988395 SCV001265484 benign Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000431340 SCV001988765 benign not provided 2021-07-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535217, 27521716, 33713793, 26096995)

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.