ClinVar Miner

Submissions for variant 46;XY;t(4;14)(p14;q11.2)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 RCV000258769 SCV000320875 uncertain significance Epicanthus; Micrognathia; Posteriorly rotated ears; Hearing impairment; Feeding difficulties; Optic nerve hypoplasia; Tall stature; Nystagmus; Tracheomalacia; Stereotypic movement disorder; Abnormal facial shape; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Short philtrum; Abnormality of eye movement; Impaired social interactions; Preaxial hand polydactyly; Decreased fetal movement; Broad toe; Generalized non-motor (absence) seizure; Ankle flexion contracture; Reduced visual acuity; Hypoplastic helices; 1-2 finger syndactyly; Intellectual disability, severe; Severe global developmental delay; Gastrostomy tube feeding in infancy; Thick vermilion border 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.