ClinVar Miner

Variants in gene ALK

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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 risk factor not provided total
22 21 1412 547 99 4 36 2009

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Neuroblastoma 3 16 1 1373 454 77 4 0 1884
Hereditary cancer-predisposing syndrome 0 0 72 59 29 0 0 160
not provided 1 0 18 86 34 0 0 139
not specified 0 0 5 40 32 0 29 90
Neuroblastoma 13 9 1 0 0 0 0 23
Squamous cell lung carcinoma 0 3 5 2 0 0 0 10
Lung adenocarcinoma 0 7 0 0 0 0 0 7
Neuroblastoma Susceptibility 0 0 3 3 1 0 0 7
Non-small cell lung cancer 0 0 0 0 0 0 7 7
Neoplasm of brain 0 3 0 0 0 0 0 3
Breast neoplasm 0 2 0 0 0 0 0 2
Rhabdomyosarcoma (disease) 1 1 0 0 0 0 0 2
Acute myeloid leukemia 0 0 1 0 0 0 0 1
Anaplastic/large cell medulloblastoma 0 0 1 0 0 0 0 1
Atypical teratoid/rhabdoid tumor 0 0 1 0 0 0 0 1
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 0 1
Benign Soft Tissue Neoplasm of Uncertain Differentiation 0 0 0 0 0 0 1 1
Ganglioneuroblastoma 0 0 1 0 0 0 0 1
Low grade fibromyxoid sarcoma 0 0 1 0 0 0 0 1
Pilocytic astrocytoma 0 0 1 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 1
See cases 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 0 0 1323 468 54 0 0 1845
Illumina Clinical Services Laboratory,Illumina 0 0 77 40 50 0 0 167
Ambry Genetics 0 0 72 59 29 0 0 160
GeneDx 0 0 6 42 37 0 0 85
Integrated Genetics/Laboratory Corporation of America 0 0 2 3 24 0 0 29
ITMI 0 0 0 0 0 0 29 29
Database of Curated Mutations (DoCM) 13 16 0 0 0 0 7 28
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 12 1 2 0 0 0 0 15
PreventionGenetics, PreventionGenetics 0 0 0 1 14 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 12 0 0 14
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 11 0 0 13
Baylor Genetics 0 0 11 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 0 0 11 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 9 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 6 3 1 0 0 10
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 3 5 2 0 0 0 10
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 9 0 0 0 0 9
GeneReviews 8 0 0 0 0 0 0 8
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 6 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 7 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 4 0 0 7
OMIM 0 0 0 0 0 4 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 0 2
Mendelics 0 0 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 0 1
ISCA site 8 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Department of Pathology and Genetics,University of Gothenburg 1 0 0 0 0 0 0 1

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