ClinVar Miner

Variants studied for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

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 total
18 19 94 8 6 140

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RERE 18 19 94 8 6 140

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Revvity Omics, Revvity 0 1 27 0 0 28
Baylor Genetics 0 1 14 0 0 15
New York Genome Center 0 0 14 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 6 2 0 12
Daryl Scott Lab, Baylor College of Medicine 8 2 1 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 2 6 1 9
OMIM 6 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 4 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 1 3
MGZ Medical Genetics Center 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 2
3billion, Medical Genetics 0 2 0 0 0 2
Royal Medical Services, Bahrain Defence Force Hospital 0 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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