ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2026C>T (p.His676Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1376096484
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244122 SCV002512415 uncertain significance Shprintzen-Goldberg syndrome 2021-04-22 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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.