ClinVar Miner

Variants in gene SAMD9

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Gene type:

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
16 37 1779 832 33 12 2603

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 2 2 1213 635 0 0 1852
not provided 9 12 899 481 28 0 1390
not specified 0 0 104 29 22 0 152
SAMD9-related disorder 3 1 67 37 2 1 111
MIRAGE syndrome 6 18 24 1 0 4 47
Monosomy 7 myelodysplasia and leukemia syndrome 2 3 1 33 0 0 0 37
Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2 1 0 14 8 2 1 26
Normophosphatemic familial tumoral calcinosis 2 4 11 2 0 0 19
Hereditary cancer-predisposing syndrome 0 3 0 0 0 0 3
See cases 1 1 1 0 0 0 3
Intellectual disability 0 0 1 1 0 0 2
Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome 0 0 2 0 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Ataxia-pancytopenia syndrome 0 0 1 0 0 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Familial thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Hereditary cancer 0 0 1 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Myelodysplastic syndrome 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 2 2 1213 635 0 0 1852
Labcorp Genetics (formerly Invitae), Labcorp 5 3 755 468 28 0 1259
GeneDx 6 6 317 12 11 0 352
PreventionGenetics, part of Exact Sciences 3 0 67 37 2 0 109
Genetic Services Laboratory, University of Chicago 0 1 71 22 10 0 104
CeGaT Center for Human Genetics Tuebingen 1 2 21 17 2 0 43
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 36 5 0 0 42
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 35 0 0 0 35
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 11 12 0 30
Breakthrough Genomics, Breakthrough Genomics 0 0 4 6 15 0 25
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 3 3 0 15
Fulgent Genetics, Fulgent Genetics 1 0 6 5 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 3 7 0 10
Counsyl 0 2 6 1 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 6 1 0 0 9
Revvity Omics, Revvity 0 0 8 0 0 0 8
OMIM 7 0 0 0 0 0 7
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 6 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 4 0 6
3billion 0 3 1 0 0 0 4
Baylor Genetics 0 3 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 2 0 0 4
GeneReviews 0 0 0 0 0 4 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 0 0 4
Mendelics 0 0 4 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 1 0 0 3
Centre of Medical Genetics, University Hospital Muenster 1 1 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 0 3
Molecular Pathology, Peter Maccallum Cancer Centre 0 3 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 0 1 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 2 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Clinical Immunology, Karolinska University Hospital 0 1 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Dasa 0 0 1 0 0 0 1
Department of Precision Medicine, Korea National Institute of Health 0 0 1 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 1 0 0 0 0 0 1
Pediatric Hematology-Oncology, Riley Hospital for Children 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1

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