ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His)

gnomAD frequency: 0.00045  dbSNP: rs149638556
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
Invitae RCV000877133 SCV001019818 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Mendelics RCV000990090 SCV001140883 likely benign Schinzel-Giedion syndrome 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000877133 SCV001947283 benign not provided 2019-04-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23222956)
CeGaT Center for Human Genetics Tuebingen RCV000877133 SCV004143027 benign not provided 2023-01-01 criteria provided, single submitter clinical testing SETBP1: BP4, BS1, BS2

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.