ClinVar Miner

Variants in gene ERBB3

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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 risk factor total
10 13 74 39 40 1 165

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 0 1 19 29 36 0 82
not specified 0 0 42 4 0 0 46
ERBB3-related disorder 0 3 8 9 3 0 23
Lethal congenital contracture syndrome 2 1 3 3 0 4 0 11
Visceral neuropathy, familial, 1, autosomal recessive 5 2 3 0 0 0 8
Erythroleukemia, familial, susceptibility to; Lethal congenital contracture syndrome 2; Visceral neuropathy, familial, 1, autosomal recessive 0 3 2 0 0 0 5
Malignant tumor of urinary bladder 4 0 0 0 0 0 4
Visceral neuropathy, familial 0 0 0 0 4 0 4
Erythroleukemia, familial, susceptibility to 0 1 0 0 0 1 1
Lethal congenital contracture syndrome 1 0 0 1 0 0 0 1
Prostate cancer 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Ambry Genetics 0 0 39 3 0 0 42
GeneDx 0 0 1 11 28 0 40
Breakthrough Genomics, Breakthrough Genomics 0 0 1 9 19 0 29
PreventionGenetics, part of Exact Sciences 0 2 8 9 3 0 22
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 11 8 0 19
CeGaT Center for Human Genetics Tuebingen 0 1 2 9 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 9
Revvity Omics, Revvity 0 0 6 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 3 1 0 0 6
OMIM 4 0 0 0 0 1 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Laboratory of Urology, Hospital Clinic de Barcelona 4 0 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Science for Life laboratory, Karolinska Institutet 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
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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