ClinVar Miner

Variants studied for Knobloch syndrome 1

Coded as:
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
11 9 11 4 2 1 38

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 7 2 4 2 0 1 16
COL18A1, SLC19A1 3 3 7 0 1 0 14
​intergenic 1 3 0 1 1 0 6
BNAT1, COL18A1 0 0 0 1 0 0 1
COL18A1, MIR6815 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 5 1 2 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 0 5
MGZ Medical Genetics Center 2 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
3billion 0 0 0 3 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 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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