ClinVar Miner

Variants studied for autosomal recessive osteopetrosis 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
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
55 127 208 27 16 1 394

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
TCIRG1 55 125 207 27 16 1 391
MIR6753, TCIRG1 0 2 0 0 0 0 2
PLEKHM1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 9 3 96 17 13 0 138
Baylor Genetics 36 75 2 0 0 0 113
Illumina Laboratory Services, Illumina 1 0 75 7 9 0 92
Counsyl 8 32 27 1 0 0 68
Fulgent Genetics, Fulgent Genetics 6 5 25 2 0 0 38
Molecular Lab, Department of Haematology, Christian Medical College 13 0 1 0 0 0 14
Myriad Genetics, Inc. 1 11 1 0 0 0 13
Revvity Omics, Revvity 4 3 4 0 0 0 11
3billion 3 3 2 1 0 0 9
Genome-Nilou Lab 0 0 2 1 5 0 8
OMIM 7 0 0 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Mendelics 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
DASA 1 0 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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