ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.444-7C>T

gnomAD frequency: 0.00008  dbSNP: rs375045349
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065662 SCV002356387 benign Kabuki syndrome 2 2024-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000898664 SCV002525285 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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.