ClinVar Miner

Variants in gene ALK

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 risk factor not provided total
22 17 525 239 72 4 36 805

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Neuroblastoma 3 16 1 482 173 60 4 0 728
Neuroblastoma Susceptibility 0 0 35 43 13 0 0 91
not specified 0 0 4 38 29 0 29 85
Hereditary cancer-predisposing syndrome 0 0 17 11 23 0 0 51
not provided 0 0 9 1 19 0 0 29
Neuroblastoma 13 9 1 0 0 0 0 23
Lung adenocarcinoma 0 7 0 0 0 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
Neoplasm of the breast 0 2 0 0 0 0 0 2
Acute myeloid leukemia 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
Large Cell/Anaplastic Medulloblastoma 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
Rhabdomyosarcoma 1 0 0 0 0 0 0 1
See cases 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 0 0 482 170 50 0 0 702
Illumina Clinical Services Laboratory,Illumina 0 0 35 43 13 0 0 91
GeneDx 0 0 6 37 22 0 0 65
Ambry Genetics 0 0 17 11 23 0 0 51
ITMI 0 0 0 0 0 0 29 29
Database of Curated Mutations (DoCM) 13 16 0 0 0 0 7 28
Integrated Genetics/Laboratory Corporation of America 0 0 2 1 21 0 0 24
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 12 1 2 0 0 0 0 15
PreventionGenetics 0 0 0 1 14 0 0 15
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 11 0 0 13
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
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 5 0 0 6
OMIM 0 0 0 0 0 4 0 4
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 0 2
ISCA site 8 0 0 0 0 1 0 0 1
Department of Pathology and Genetics,University of Gothenburg 1 0 0 0 0 0 0 1

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