Molecular Genetics Laboratory (University of Michigan)
General information
Molecular Genetics Laboratory
University of Michigan
2800 Plymouth Road, Building 35
Ann Arbor
Michigan
United States - 48109
http://mmgl.med.umich.edu/
Organization ID: 308659
University of Michigan
2800 Plymouth Road, Building 35
Ann Arbor
Michigan
United States - 48109
http://mmgl.med.umich.edu/
Organization ID: 308659
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 321
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BRCA1 | 114 | Apr 21, 2016 |
| BRCA2 | 207 | Apr 21, 2016 |
| LOC126862571 | 13 | Apr 21, 2016 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Breast-ovarian cancer, familial, susceptibility to, 1 | 114 | Apr 21, 2016 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 207 | Apr 21, 2016 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 22q partial monosomy | 1 test |
| Angelman syndrome due to paternal uniparental disomy of chromosome 15 | 1 test |
| Anomaly of sex chromosome | 1 test |
| Autism | 1 test |
| Beckwith-Wiedemann syndrome | 1 test |
| Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 | 1 test |
| Brachydactyly type B2 | 1 test |
| Breast cancer, early-onset | 1 test |
| Breast cancer, familial male | 1 test |
| Breast cancer, susceptibility to | 1 test |
| Breast neoplasm | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 test |
| CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis | 1 test |
| CHARGE syndrome | 1 test |
| Chromosome 17, deletion 17q23 q24 | 1 test |
| Chromosome 1p36 deletion syndrome | 1 test |
| Chromosome 1q21.1 deletion syndrome | 1 test |
| Chromosome 22q11.2 deletion syndrome, distal | 1 test |
| Chromosome 22q11.2 microduplication syndrome | 1 test |
| Chromosome 2p16.1-p15 deletion syndrome | 1 test |
| Chromosome 2q37 deletion syndrome | 1 test |
| Chromosome Xp11.23-p11.22 duplication syndrome | 1 test |
| Chromosome Xq28 duplication syndrome | 1 test |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 1 test |
| Cystic fibrosis | 2 tests |
| Distal monosomy 10p | 1 test |
| Familial cancer of breast | 2 tests |
| Hereditary breast ovarian cancer syndrome | 2 tests |
| Intellectual disability | 1 test |
| Intellectual disability, X-linked 41 | 1 test |
| Li-Fraumeni syndrome | 1 test |
| Maternal uniparental disomy of chromosome 20 | 1 test |
| Paternal uniparental disomy of chromosome 14 | 1 test |
| Paternal uniparental disomy of chromosome 20 | 1 test |
| Phelan-McDermid syndrome | 1 test |
| Prader-Willi syndrome | 1 test |
| Proximal 16p11.2 microdeletion syndrome | 1 test |
| Russell-Silver syndrome | 1 test |
| Silver-Russell syndrome due to an imprinting defect of 11p15 | 1 test |
| Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 | 1 test |
| Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | 1 test |
| Stapes ankylosis with broad thumbs and toes | 1 test |
| Symphalangism, proximal, 1B | 1 test |
| Symphalangism-brachydactyly syndrome | 1 test |
| Tarsal-carpal coalition syndrome | 1 test |
| Trisomy X syndrome | 1 test |
| Uniparental disomy of 11 | 1 test |
| Uniparental disomy of 7 | 1 test |
| Uniparental disomy of chromosome 6 | 1 test |
| Uniparental disomy of maternal origin | 4 tests |
| Uniparental disomy of paternal origin | 4 tests |
| Wilson disease | 1 test |
| X chromosome deletion/duplication | 1 test |
