Michigan Medical Genetics Laboratories - Submitter

Michigan Medical Genetics Laboratories (University of Michigan)

General information

Michigan Medical Genetics Laboratories
University of Michigan
2800 Plymouth Road, Building 35
Ann Arbor
Michigan
United States - 48109
http://mmgl.med.umich.edu/
Organization ID: 308659

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

ACMG Guidelines, 2015

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

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Disease name	Number of tests
22q partial monosomy	1 test
Angelman syndrome	2 tests
Angelman syndrome-like	1 test
Anomaly of sex chromosome	1 test
Autism	3 tests
Autism spectrum disorder	1 test
Brachydactyly type B2	1 test
Breast cancer, early-onset	5 tests
Breast cancer, familial male	5 tests
Breast cancer, susceptibility to	5 tests
Breast neoplasm	4 tests
Breast-ovarian cancer, familial, susceptibility to, 1	3 tests
Breast-ovarian cancer, familial, susceptibility to, 2	3 tests
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
Cystic fibrosis	3 tests
Developmental and epileptic encephalopathy, 2	1 test
Distal monosomy 10p	1 test
Familial cancer of breast	5 tests
Fanconi anemia complementation group D1	1 test
Hereditary breast ovarian cancer syndrome	6 tests
Intellectual disability	1 test
Intellectual disability, X-linked 41	1 test
Intellectual disability, autosomal dominant 20	1 test
Li-Fraumeni syndrome	1 test
Lysinuric protein intolerance	1 test
Phelan-McDermid syndrome	1 test
Prader-Willi syndrome	1 test
Proximal 16p11.2 microdeletion syndrome	1 test
Rett syndrome	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
Wilson disease	1 test
X chromosome deletion/duplication	1 test

ClinVar

Relating variation to medicine