ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.658G>A (p.Glu220Lys) (rs530391015)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711995 SCV000842408 pathogenic not provided 2018-04-18 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000735784 SCV000863946 pathogenic Focal segmental glomerulosclerosis 5 2018-09-14 no assertion criteria provided clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626959 SCV000747662 likely pathogenic Proteinuria; Renal insufficiency; Focal segmental glomerulosclerosis; Hypertension 2017-01-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790334 SCV000929744 uncertain significance Charcot-Marie-Tooth disease 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.