ClinVar Miner

Variants studied for Pitt-Hopkins syndrome

Included ClinVar conditions (2):
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
76 31 182 66 70 409

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
TCF4 75 31 181 66 70 407
LOC109609705, LOC110120867, LOC110121390, MIR4529, TCF4 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 34 7 72 57 16 186
Illumina Clinical Services Laboratory,Illumina 0 0 102 8 60 170
Genetic Services Laboratory, University of Chicago 13 8 2 0 0 23
Mendelics 5 1 0 1 1 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 4 1 0 8
OMIM 6 0 0 0 0 6
Baylor Genetics 5 0 1 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 1 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 4 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 1

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