ClinVar Miner

Variants studied for Knobloch syndrome 1

Included ClinVar conditions (3):
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
26 9 160 33 67 1 292

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL18A1 14 5 91 11 44 1 166
COL18A1, SLC19A1 10 4 61 22 23 0 116
BNAT1, COL18A1 1 0 7 0 0 0 8
ADAMTS18 0 0 1 0 0 0 1
PAK2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 135 20 51 0 206
Fulgent Genetics, Fulgent Genetics 1 0 14 9 1 0 25
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
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
New York Genome Center 0 1 2 0 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
DASA 2 0 0 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 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
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 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
Neuberg Centre For Genomic Medicine, NCGM 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

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