ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1170C>T (p.Ala390=)

gnomAD frequency: 0.00482  dbSNP: rs8091231
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
Genetic Services Laboratory, University of Chicago RCV000147454 SCV000194887 benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV000875091 SCV001017366 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000875091 SCV001911085 benign not provided 2020-02-28 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315931 SCV004015440 benign Schinzel-Giedion syndrome 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975165 SCV004792656 benign SETBP1-related condition 2019-11-01 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.