Muenke lab (National Institutes of Health), Muenke-NIH
General information
Personnel
- Seth Berger, Informatics staff
Phone: 301-594-9977
Email: seth.berger@nih.gov - Paul Kruszka, Informatics staff
Phone: 3014029654
Email: paul.kruszka@nih.gov - Ariel Martinez, Lab Director
Phone: 301-451-7409
Email: ariel.martinez@nih.gov - Maximilian Muenke, Principal Investigator
Phone: 301-594-9977
Email: mamuenke@mail.nih.gov - Erich Roessler, Informatics staff
Phone: 3014025600
Email: eroessle@mail.nih.gov - Karin Weiss, Informatics staff
Phone: 3015940356
Email: karin.weiss@nih.gov
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 40
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Craniosynostosis syndrome | 3 | Mar 28, 2017 |
| Hartsfield-Bixler-Demyer syndrome | 8 | Apr 18, 2018 |
| Holoprosencephaly 2 | 2 | Apr 9, 2018 |
| Holoprosencephaly 3 | 4 | Apr 9, 2018 |
| Holoprosencephaly 4 | 1 | Apr 9, 2018 |
| Holoprosencephaly 5 | 6 | Apr 9, 2018 |
| Holoprosencephaly sequence | 15 | Feb 5, 2019 |
| Intellectual disability, autosomal dominant | 3 | Mar 28, 2017 |
| Solitary median maxillary central incisor syndrome | 1 | Apr 9, 2018 |