ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del)

dbSNP: rs781936420
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 RCV001318498 SCV001509204 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001318498 SCV001776794 likely benign not provided 2019-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493666 SCV002795787 likely benign Wiedemann-Steiner syndrome 2022-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001318498 SCV004136164 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing KMT2A: BS1

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.