ClinVar Miner

Variants in gene ALK

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Gene type:

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
19 20 4008 2576 277 85 6431

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neuroblastoma, susceptibility to, 3 13 1 3019 1712 101 10 4793
Hereditary cancer-predisposing syndrome 1 0 2351 1589 127 0 4004
not provided 1 0 388 188 136 0 699
not specified 0 0 17 39 40 29 101
ALK-related disorder 0 1 34 50 6 0 91
Ovarian serous cystadenocarcinoma 0 0 0 0 0 36 36
Ovarian cancer 0 5 0 0 10 1 16
Neuroblastoma 12 1 0 0 0 0 13
Familial isolated pituitary adenoma 0 0 11 1 0 0 12
Squamous cell lung carcinoma 0 3 5 2 0 0 10
Neoplasm 1 2 5 0 0 0 8
Lung cancer 0 4 0 0 0 1 5
Melanoma 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Rhabdomyosarcoma 0 2 0 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Glioblastoma 0 0 1 0 0 0 1
Lung adenocarcinoma 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Multiple endocrine neoplasia type 2A 0 0 0 1 0 0 1
Nodular ganglioneuroblastoma 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Phonic tics 0 0 1 0 0 0 1
Pseudo-fractures 0 0 1 0 0 0 1
See cases 0 0 0 0 1 0 1
Thymoma 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 2909 1683 87 0 4681
Ambry Genetics 1 0 2323 1568 93 0 3985
GeneDx 0 0 355 96 117 0 568
Baylor Genetics 0 0 353 0 0 0 353
Illumina Laboratory Services, Illumina 0 0 73 37 49 0 159
Sema4, Sema4 0 0 56 58 41 0 155
CeGaT Center for Human Genetics Tuebingen 0 0 9 105 22 0 136
PreventionGenetics, part of Exact Sciences 0 1 34 51 20 0 106
Breakthrough Genomics, Breakthrough Genomics 0 0 9 27 56 0 92
Fulgent Genetics, Fulgent Genetics 0 0 79 6 0 0 85
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 9 53 0 62
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 52 1 0 0 54
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 6 9 33 0 48
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 47 47
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 9 23 0 39
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 11 15 0 32
ITMI 0 0 0 0 0 29 29
Genetic Services Laboratory, University of Chicago 0 0 8 6 4 0 18
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 4 4 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 12 0 16
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 11 2 3 0 0 0 16
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 12 1 2 0 0 0 15
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 5 0 0 10 0 15
Revvity Omics, Revvity 0 0 15 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 9 0 11
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 10 0 1 0 11
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 3 5 2 0 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 7 0 9
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 2 5 0 0 0 8
Eurofins Ntd Llc (ga) 0 0 3 0 4 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 7 0 7
GeneReviews 0 0 0 0 0 6 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 4 0 4
Mendelics 0 0 2 2 0 0 4
Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg 0 4 0 0 0 0 4
OMIM 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Dasa 0 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 0 2 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Department of Pathology and Genetics, University of Gothenburg 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 1 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
ISCA site 8 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 0 1 0 0 1
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 1 0 0 0 1
M.M. Shemyakin and Yu.A. Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Science 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1

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