ClinVar Miner

Variants in gene ERBB4

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 not provided total
4 6 306 223 123 6 645

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 0 222 199 120 1 536
ERBB4-related disorder 0 0 36 42 7 0 85
Inborn genetic diseases 2 1 42 7 0 0 52
not specified 0 0 10 3 19 0 32
Amyotrophic lateral sclerosis type 19 2 2 18 1 5 0 27
Amyotrophic lateral sclerosis 0 1 6 0 1 0 8
Normal pregnancy 0 0 0 0 0 3 3
See cases 0 0 2 0 1 0 3
Amyotrophic lateral sclerosis type 10 0 0 2 0 0 0 2
Large for gestational age 0 0 0 0 0 2 2
Schizophrenia 0 0 2 0 0 0 2
ERBB4-associated epilepsy syndrome 0 0 1 0 0 0 1
ERBB4-related Non-syndromic intellectual disability or epilepsy 0 0 1 0 0 0 1
Frontotemporal dementia 0 1 0 0 0 0 1
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 1 1
NK-cell enteropathy 0 1 0 0 0 0 1
Small for gestational age 0 0 0 0 0 1 1
Teratoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 206 189 39 0 435
GeneDx 0 0 0 0 89 0 89
PreventionGenetics, part of Exact Sciences 0 0 36 42 7 0 85
Ambry Genetics 2 1 42 7 0 0 52
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 38 0 41
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 16 0 16
CeGaT Center for Human Genetics Tuebingen 0 0 3 11 1 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 9 3 0 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 5 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 7 4 0 11
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 7 1 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 1 0 0 7
Revvity Omics, Revvity 0 0 5 0 0 0 5
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 5 5
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 3 0 1 0 5
Genome-Nilou Lab 0 0 0 0 3 0 3
UM ALS/MND Lab, University Of Malta 0 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 0 2 0 2
Department of Neurology The University of Tokyo, Graduate School of Medicine 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 0 2 0 0 0 2
Department of Psychiatry, The University of Hong Kong 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 0 1 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Guerreiro-Bras Laboratory, Van Andel Institute 0 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 0 0 1
Research Center of Medical Experimental Technology, The Third Xiangya Hospital of Central South University 0 0 1 0 0 0 1

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