ClinVar Miner

Variants in gene SAMD9L

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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
9 28 1744 750 43 13 2454

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 0 0 1175 649 0 0 1824
not provided 5 10 929 291 43 0 1244
not specified 0 0 58 20 25 0 100
SAMD9L-related disorder 1 3 45 36 6 0 91
Ataxia-pancytopenia syndrome 5 9 61 0 0 7 71
Monosomy 7 myelodysplasia and leukemia syndrome 1; Ataxia-pancytopenia syndrome; Spinocerebellar ataxia 49 0 0 22 6 1 0 29
Monosomy 7 myelodysplasia and leukemia syndrome 1 4 4 6 0 0 0 13
Spinocerebellar ataxia 49 1 3 7 0 0 0 11
Microcephaly 0 0 3 0 0 0 3
Gastric cancer 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Monosomy 7 myelodysplasia and leukemia syndrome 1; Ataxia-pancytopenia syndrome 0 1 1 0 0 0 2
Primary ciliary dyskinesia 12 0 0 2 0 0 0 2
Hereditary cancer 0 0 1 0 0 0 1
Hereditary cancer-predisposing syndrome 0 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
SAMD9L-associated autoinflammatory syndrome 0 1 0 0 0 0 1
See cases 0 0 0 1 0 0 1
interferonopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 1175 649 0 0 1824
Labcorp Genetics (formerly Invitae), Labcorp 3 1 772 265 42 0 1083
GeneDx 2 3 307 7 11 0 330
PreventionGenetics, part of Exact Sciences 1 1 45 36 6 0 89
Genetic Services Laboratory, University of Chicago 0 2 47 16 13 0 78
Mayo Clinic Laboratories, Mayo Clinic 0 0 13 11 18 0 42
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 3 36 0 0 0 40
CeGaT Center for Human Genetics Tuebingen 0 3 15 14 5 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 10 14 0 29
Fulgent Genetics, Fulgent Genetics 0 0 18 5 0 0 23
Breakthrough Genomics, Breakthrough Genomics 0 0 3 4 15 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 15 2 0 0 18
3billion 0 3 6 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 2 2 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 7 0 0 0 9
Revvity Omics, Revvity 0 0 9 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 0 0 7 0 0 0 7
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 4 1 0 5
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 2 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 2 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 1 0 0 3
New York Genome Center 0 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratorio de Genética, Hospital Universitario Reina Sofía 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
Mendelics 1 0 0 0 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1

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