ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.11G>A (p.Arg4His)

gnomAD frequency: 0.02616  dbSNP: rs35418374
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242526 SCV000306472 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000545742 SCV000363441 likely benign Familial hemophagocytic lymphohistiocytosis 2 2017-04-27 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000425105 SCV000510796 benign not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV000545742 SCV000644875 benign Familial hemophagocytic lymphohistiocytosis 2 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000545742 SCV001138070 benign Familial hemophagocytic lymphohistiocytosis 2 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000425105 SCV001874625 benign not provided 2020-06-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17311987, 25354579)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000242526 SCV002050919 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002260968 SCV002542762 benign Autoinflammatory syndrome 2020-05-01 criteria provided, single submitter clinical testing
OMIM RCV000014723 SCV000034978 pathogenic Aplastic anemia 2007-06-15 no assertion criteria provided literature only

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.