ClinVar Miner

Variants in gene SBF1

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Minimum conflict level:
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
27 38 910 1125 154 38 2155

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 25 9 722 1098 143 1 1919
not specified 0 0 384 54 43 0 474
Charcot-Marie-Tooth disease type 4B3 4 10 57 35 39 1 141
SBF1-related disorder 0 3 12 36 6 0 57
Tip-toe gait 0 15 0 0 7 0 22
Gastric cancer 0 0 0 0 0 7 7
Familial cancer of breast 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Charcot-Marie-Tooth disease 0 2 1 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Microcephaly 0 0 2 0 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Peripheral neuropathy 0 0 2 0 0 0 2
Autism spectrum disorder 0 1 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4 0 1 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
See cases 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 23 5 606 986 92 0 1712
Ambry Genetics 0 0 362 8 0 0 370
GeneDx 1 2 139 107 71 0 320
Mayo Clinic Laboratories, Mayo Clinic 0 0 81 37 37 0 155
CeGaT Center for Human Genetics Tuebingen 1 2 51 67 3 0 124
Breakthrough Genomics, Breakthrough Genomics 0 0 14 54 47 0 115
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 38 36 26 0 100
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 35 44 4 0 84
PreventionGenetics, part of Exact Sciences 0 3 12 36 9 0 60
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 37 37
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 15 0 0 7 0 22
Genome-Nilou Lab 0 0 0 0 13 0 13
Clinical Genetics, Academic Medical Center 0 0 1 4 7 0 12
Fulgent Genetics, Fulgent Genetics 0 0 8 1 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 1 0 8
Baylor Genetics 0 1 5 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 4 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 3
OMIM 3 0 0 0 0 0 3
Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 1 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 1
Inherited Neuropathy Consortium 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Liping Wei Laboratory, Peking University 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1

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