ClinVar Miner

Variants studied for Knobloch syndrome 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
20 4 139 24 60 243

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 total
COL18A1 12 2 88 8 38 148
COL18A1, SLC19A1 8 2 50 16 22 94
ADAMTS18 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 135 20 51 206
OMIM 11 0 1 0 0 12
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 8 10
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 7 7
Mendelics 0 0 0 2 4 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 6 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 4
Yale Center for Mendelian Genomics,Yale University 3 0 0 0 0 3
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 2
Genetic Services Laboratory,University of Chicago 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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