ClinVar Miner

Variants studied for Maturity-onset diabetes of the young

Coded as:
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Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
179 333 949 308 355 1 2003

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCC8 5 3 444 0 8 0 458
GCK 64 149 110 55 82 0 436
HNF1A 68 102 71 87 76 0 351
HNF4A 19 36 74 57 121 0 284
HNF1B 20 33 61 67 24 0 191
KCNJ11 0 1 157 0 6 0 164
PDX1 0 4 5 30 5 0 42
C12orf43, HNF1A 1 1 7 4 22 0 33
HNF1B, LOC126862549 0 3 7 7 5 0 20
ABCC8, LOC110121471 0 0 8 0 3 0 11
PAX4 0 0 2 0 1 0 3
CEL 1 0 1 0 0 0 2
ABCC8, KCNJ11 0 0 1 0 0 0 1
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 1
LMNA 0 0 0 1 0 0 1
LOC127407129, RFX6 0 1 0 0 0 0 1
MLKL 0 0 0 0 0 1 1
NEUROD1 0 0 0 0 1 0 1
PTF1A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 56 225 830 123 325 0 1559
Ambry Genetics 81 55 95 199 34 0 464
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 50 17 0 0 0 0 67
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 36
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 14 16 0 0 0 0 30
Molecular Genetics, Madras Diabetes Research Foundation 3 4 6 1 0 0 14
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 8 0 2 0 11
MVZ Dr. Eberhard & Partner Dortmund 0 1 6 0 0 0 7
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 1 1 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 1 2 1 0 0 0 4
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1 1 0 0 0 0 2
Diabetes Institute, Department of Endocrinology and Metabolism, First Affiliated Hospital of Zhengzhou University 2 0 0 0 0 0 2
Mendelics 0 0 1 0 1 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 0 0 0 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Medical Genomics Research Department, King Abdullah International Medical Research Center 0 0 1 0 0 0 1
Sidra Medicine 0 0 0 0 0 1 1

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