ClinVar Miner

Variants studied for Deficiency of steroid 17-alpha-monooxygenase

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
42 53 41 15 5 3 144

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP17A1 42 53 38 15 4 3 140
CYP17A1, LOC110408762 0 0 3 0 1 0 4

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 35 42 1 0 0 0 78
Natera, Inc. 12 4 16 3 2 0 37
Fulgent Genetics, Fulgent Genetics 6 4 6 11 0 0 27
Illumina Laboratory Services, Illumina 1 0 21 0 3 0 25
Genome-Nilou Lab 0 0 0 3 5 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 4
Revvity Omics, Revvity 1 1 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Clinical Biochemistry Laboratory, Health Services Laboratory 1 0 1 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 1
Department of Medical Genetics, Kayseri City Hospital 0 1 0 0 0 0 1

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