ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser)

dbSNP: rs267607038
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Duke University Health System Sequencing Clinic, Duke University Health System RCV001007402 SCV003918915 pathogenic Schinzel-Giedion syndrome 2023-04-20 criteria provided, single submitter research
GenomeConnect, ClinGen RCV000509340 SCV000607194 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Genomics And Bioinformatics Analysis Resource, Columbia University RCV001007402 SCV001162777 pathogenic Schinzel-Giedion syndrome 2020-02-25 no assertion criteria provided clinical testing

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.