Sbielas Lab-Department of Human Genetics University of Michigan (University Of Michigan), DHG-UMich
General information
Personnel
- Amanda Moccia, Staff
Phone: 734-647-8852
Email: moccia@umich.edu - Anshika Srivastava, Staff
Phone: 734-647-8852
Email: anshikas@umich.edu - Elizabeth Werren, Staff
Phone: 5132357346
Email: werrene@umich.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 33
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 8q24.3 microdeletion syndrome | 1 | Oct 30, 2017 |
| Autosomal recessive primary microcephaly | 4 | Jul 11, 2016 |
| CHARGE association | 15 | Oct 30, 2017 |
| GATAD2A-associated neurodevelopmental disorder | 5 | Apr 5, 2023 |
| Kabuki syndrome 1 | 1 | Oct 30, 2017 |
| Kabuki syndrome 2 | 1 | Oct 30, 2017 |
| Mitochondrial complex I deficiency | 1 | Aug 9, 2017 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Oct 30, 2017 |
| Oto-palato-digital syndrome, type I | 1 | Oct 30, 2017 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Oct 30, 2017 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2 | Mar 5, 2019 |