ClinVar Miner

Variants studied for Knobloch syndrome

Included ClinVar conditions (4):
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
32 19 167 38 69 1 320

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL18A1 17 8 93 14 44 1 177
COL18A1, SLC19A1 12 5 64 22 24 0 122
BNAT1, COL18A1 1 0 7 1 0 0 8
​intergenic 1 3 0 1 1 0 6
PAK2 1 2 2 0 0 0 5
ADAMTS18 0 0 1 0 0 0 1
COL18A1, MIR6815 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 133 20 51 0 204
Fulgent Genetics, Fulgent Genetics 1 0 15 9 1 0 26
Department of Pathology and Laboratory Medicine, Sinai Health System 1 4 7 2 3 0 17
OMIM 11 0 1 0 0 0 12
Genome-Nilou Lab 0 0 0 0 11 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 8 0 10
Mendelics 2 0 0 2 4 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 7 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 0 5
New York Genome Center 0 1 4 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 1 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 0 3
3billion 0 0 0 3 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 1 0 0 0 1
Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine 0 1 0 0 0 0 1

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