ClinVar Miner

Variants studied for Porencephaly 2

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
9 20 113 25 119 280

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL4A2 9 20 113 24 114 274
COL4A1, COL4A2 0 0 0 1 5 6

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 55 22 110 187
Genome-Nilou Lab 0 0 0 0 17 17
New York Genome Center 0 0 15 0 0 15
Revvity Omics, Revvity 0 0 11 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 4 1 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 1 1 7
Baylor Genetics 1 0 5 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 1 6
OMIM 4 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 4
Mendelics 0 1 0 0 3 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 1 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 1 0 0 3
3billion 1 1 1 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 2
Department of Neurology, Zibo Changguo Hospital 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Medical Genetics, University of Zurich 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Variantyx, Inc. 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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