ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.1876G>A (p.Val626Met)

dbSNP: rs587783625
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
Genetic Services Laboratory, University of Chicago RCV000145972 SCV000193118 pathogenic Weaver syndrome 2014-04-09 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000145972 SCV002579297 pathogenic Weaver syndrome 2021-07-30 criteria provided, single submitter clinical testing
Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center RCV000145972 SCV000588200 pathogenic Weaver syndrome no assertion criteria provided research This is a de novo variant in EZH2. The patient's phenotype fits perfectly with Weaver Syndrome with tall stature and advanced bone age. This same variant is already in ClinVar in another patient with Weaver Syndrome.
GenomeConnect, ClinGen RCV001249312 SCV001423275 not provided EZH2-related disorder no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 12-04-2018 by Lab or GTR ID 26957. 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.

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.