ClinVar Miner

Variants studied for Johanson-Blizzard syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
11 14 17 3 4 47

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 total
UBR1 11 12 17 3 3 44
LOC130056936, UBR1 0 2 0 0 1 3

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 1 0 9
Fulgent Genetics, Fulgent Genetics 0 4 1 1 0 6
OMIM 5 0 0 0 0 5
Baylor Genetics 0 1 3 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 0 0 4
Revvity Omics, Revvity 1 1 1 0 0 3
Illumina Laboratory Services, Illumina 1 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 1
Variantyx, Inc. 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1

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