ClinVar Miner

Variants studied for Thrombocytopenia 2

Coded as:
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
7 14 88 17 92 202

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ANKRD26 7 14 81 15 85 188
ANKRD26, LOC130003554 0 0 5 1 7 11
MASTL 0 0 2 0 0 2
ACBD5, MASTL 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 46 10 72 128
Genome-Nilou Lab 0 0 0 0 67 67
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 22 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 14 16
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 4 10 1 0 0 15
Genetics and Molecular Pathology, SA Pathology 0 2 2 2 1 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 5 0 0 7
Baylor Genetics 0 0 5 0 0 5
OMIM 3 0 1 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 1 2 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Godley laboratory, The University of Chicago 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1
Ledgerwood and Morison Labs, University of Otago 0 1 0 0 0 1

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