ClinVar Miner

Variants studied for Deficiency of steroid 11-beta-monooxygenase

Coded as:
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Gene type:
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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
51 77 106 18 27 6 252

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP11B1, LOC106799833 40 61 50 8 9 6 147
CYP11B1 10 14 56 10 18 0 103
CYP11B1, LOC110673972 1 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 77 15 24 0 116
Counsyl 7 27 19 0 0 0 53
Baylor Genetics 22 29 0 0 0 0 51
Clinical Biochemistry Laboratory, Health Services Laboratory 6 9 3 0 0 0 18
OMIM 15 0 0 0 0 0 15
Myriad Genetics, Inc. 0 14 1 0 0 0 15
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 4 10 0 14
3billion 5 2 2 0 0 0 9
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 6 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 4 0 0 0 5
Molecular Endocrinology Laboratory, Christian Medical College 1 3 1 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Internal Medicine, University of Pretoria 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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