ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.1415G>A (p.Arg472His)

gnomAD frequency: 0.00050  dbSNP: rs201984344
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 RCV000878832 SCV001021810 likely benign Luscan-Lumish syndrome 2023-08-17 criteria provided, single submitter clinical testing
GeneDx RCV001672981 SCV001884654 benign not provided 2020-08-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000878832 SCV002553825 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672981 SCV004810962 benign not provided 2024-03-01 criteria provided, single submitter clinical testing SETD2: BP4, BS1, BS2

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.