ClinVar Miner

Variants studied for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Included ClinVar conditions (1):
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
43 62 47 1 9 158

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
PHIP 22 38 27 0 3 88
IRAK1BP1, PHIP 20 23 19 1 6 67
LOC129996745, PHIP 1 1 1 0 0 3

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Wendy Chung Laboratory, Boston Children's Hospital 13 21 0 0 0 34
Revvity Omics, Revvity 1 2 13 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 4 4 3 0 0 11
Genome-Nilou Lab 0 0 0 0 9 9
Baylor Genetics 1 2 5 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 5 1 0 0 8
3billion 1 4 3 0 0 8
OMIM 7 0 0 0 0 7
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 6 0 0 6
New York Genome Center 0 0 6 0 0 6
MGZ Medical Genetics Center 2 2 0 0 0 4
Mendelics 2 2 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 1 1 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 2
DASA 1 1 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 1

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