ClinVar Miner

Variants studied for Renal coloboma syndrome

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
18 10 6 0 5 3 39

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
PAX2 18 10 6 5 3 39

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 10 0 0 0 0 10
3billion 3 2 2 0 0 7
Molecular Biology Laboratory, Fundació Puigvert 5 1 0 0 0 6
Genome-Nilou Lab 0 0 0 4 0 4
GeneReviews 0 0 0 0 3 3
Precision Medicine Center, Zhengzhou University 0 3 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 1 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 2
Mendelics 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Razi Pathobiology & Medical Genetics 0 0 0 1 0 1

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