ClinVar Miner

Variants studied for encephaloclastic disorder

Included ClinVar conditions (16):
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
65 73 275 151 215 9 706

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A1 41 55 143 116 91 9 382
COL4A2 7 16 119 29 115 0 277
COL4A1, COL4A2 0 0 0 2 7 0 9
COLGALT1 4 1 3 0 0 0 8
SHH 2 0 3 2 0 0 7
SIX3 3 0 3 0 1 0 7
COL4A1, LOC126861856 1 0 2 2 1 0 6
EMX2 4 0 0 0 0 0 4
EMX2, EMX2OS 0 0 2 0 0 0 2
PLOD1 2 0 0 0 0 0 2
KAT6B 1 0 0 0 0 0 1
WDR81 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 128 85 202 0 362
Fulgent Genetics, Fulgent Genetics 1 3 52 72 2 0 130
OMIM 31 0 0 0 0 0 31
Genome-Nilou Lab 0 0 0 0 27 0 27
Baylor Genetics 6 7 11 0 0 0 24
New York Genome Center 0 0 20 0 0 0 20
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 11 1 3 0 18
Revvity Omics, Revvity 0 0 14 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 2 5 6 1 0 0 14
Athena Diagnostics 0 0 0 0 10 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 5 1 0 0 10
3billion 3 1 6 0 0 0 10
GeneReviews 0 0 0 0 0 8 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 0 0 0 0 7
Mendelics 1 3 0 0 3 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 2 3 0 0 0 6
MGZ Medical Genetics Center 1 0 4 0 0 0 5
Centogene AG - the Rare Disease Company 0 2 3 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 3 0 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 3 1 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 4 0 0 0 4
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Molecular Medicine, University of Pavia 0 1 1 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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