ClinVar Miner

Variants studied for myelodysplastic syndrome

Included ClinVar conditions (13):
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
21 48 57 24 3 2 4 157

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SAMD9 2 1 21 6 0 0 0 30
SAMD9L 4 4 11 5 0 0 0 23
ASXL1 3 4 5 6 0 0 0 18
GATA2 2 3 10 1 0 2 0 18
SLC25A38 0 0 7 3 3 0 1 14
NRAS 0 9 0 0 0 0 0 9
IDH1 0 5 0 0 0 0 0 5
TP53 0 5 0 0 0 0 0 5
DDX41 4 0 0 0 0 0 0 4
GNB1 1 1 0 2 0 0 0 4
IDH2 0 3 0 0 0 0 1 4
TET2 1 1 2 0 0 0 0 4
DNMT3A 0 3 0 0 0 0 0 3
HRAS, LRRC56 0 3 0 0 0 0 0 3
U2AF1 0 2 0 0 0 0 1 3
MT-CO1 2 0 0 0 0 0 0 2
SF3B1 0 1 1 0 0 0 1 2
EEF1D 0 1 0 0 0 0 0 1
ERBB2 0 0 0 1 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 1
RUNX1 1 0 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 1
TERT 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Database of Curated Mutations (DoCM) 0 31 0 0 0 0 3 34
Fulgent Genetics, Fulgent Genetics 0 2 12 18 0 0 0 32
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 14 0 0 0 0 16
Illumina Laboratory Services, Illumina 0 0 7 3 3 0 0 13
OMIM 10 0 0 0 0 2 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 6 2 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 3 0 0 0 0 4
Bone Marrow Failure laboratory, Queen Mary University London 4 0 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 0 2
Godley laboratory, The University of Chicago 0 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 2 0 0 0 0 0 2
3billion 0 2 0 0 0 0 0 2
Mendelics 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Klco Lab, St Judes Childrens Research Hospital 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Molecular Genetics, Sadra Medical Genetics Laboratory 0 1 0 0 0 0 0 1
Pediatric Hematology-Oncology, Riley Hospital for Children 0 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1

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