ClinVar Miner

Variants in gene RUNX1

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 total
22 25 169 103 32 337

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial platelet disorder with associated myeloid malignancy 13 5 146 94 26 276
not provided 11 16 23 17 4 71
not specified 0 0 8 7 5 19
Acute myeloid leukemia 0 5 0 0 0 5
Familial platelet disorder with associated myeloid malignancy; Acute myeloid leukemia 0 0 2 0 0 2
Anaplastic ependymoma 0 0 1 0 0 1
Leukemia, acute myeloid, m0 subtype 1 0 0 0 0 1
Papillary thyroid carcinoma 0 0 1 0 0 1
Pilocytic astrocytoma 0 0 1 0 0 1
Transient myeloproliferative disorder of Down syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 2 111 42 13 174
Illumina Clinical Services Laboratory,Illumina 0 0 36 54 13 103
PreventionGenetics 9 16 20 17 5 67
Genetic Services Laboratory, University of Chicago 1 1 7 2 0 11
OMIM 9 0 0 0 0 9
Database of Curated Mutations (DoCM) 0 5 0 0 0 5
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 1 0 0 0 4 5
GeneDx 0 0 3 0 0 3
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 3 0 0 3
Fulgent Genetics 0 0 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 1

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