ClinVar Miner

Variants studied for thrombocytosis disease

Included ClinVar conditions (12):
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
107 31 156 379 22 1 1 673

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MPL 98 27 114 371 15 1 0 605
THPO 3 1 27 6 5 0 0 42
INSL6, JAK2 2 1 12 1 1 0 1 17
SH2B3 2 1 2 1 1 0 0 5
CALR 2 0 0 0 0 0 0 2
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR 0 1 0 0 0 0 0 1
PCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@ 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 96 23 95 343 15 0 0 572
Illumina Laboratory Services, Illumina 0 0 41 37 6 0 0 84
Fulgent Genetics, Fulgent Genetics 7 5 9 2 2 0 0 25
OMIM 8 0 0 0 0 1 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 1 6 0 0 0 0 7
Baylor Genetics 1 0 4 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 0 0 1 0 0 0 3
Revvity Omics, Revvity 0 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 1
INSERM UMR 1170, INSERM 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1 0 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1

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