ClinVar Miner

Variants studied for Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Coded as:
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 not provided total
23 21 52 2 7 15 105

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH9 22 19 46 2 7 15 96
LOC126863137, MYH9 0 2 6 0 0 0 8
TUBB1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 11 13 13 1 0 0 38
OMIM 14 0 0 0 0 0 14
GeneReviews 0 0 0 0 0 14 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 5 0 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 9 0 0 0 10
Genome-Nilou Lab 0 0 0 0 7 0 7
Genetics and Molecular Pathology, SA Pathology 3 2 1 0 0 0 6
3billion 3 0 3 0 0 0 6
Mendelics 2 1 1 1 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 0 4 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 4 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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