ClinVar Miner

Submissions for variant 46;XX;t(6;15)(q23;q22)dn

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
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital RCV000258773 SCV000320815 likely pathogenic Epicanthus; Telecanthus; Global developmental delay; Hyperactivity; Growth delay; Abnormal facial shape; Anteverted nares; Wide nasal bridge; Thin upper lip vermilion; Cerebral calcification; Speech articulation difficulties; Midface retrusion; Short palpebral fissure 2016-08-20 criteria provided, single submitter research

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.