ClinVar Miner

Variants in gene SDHB

Minimum submission review status: Collection method:
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Gene type:
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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
158 77 386 163 29 6 734

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 97 30 333 98 9 0 567
Hereditary cancer-predisposing syndrome 64 31 96 49 7 0 245
not provided 33 6 18 38 6 0 95
Hereditary Paraganglioma-Pheochromocytoma Syndromes 45 16 13 6 9 1 87
Paragangliomas 4 26 10 12 5 2 0 51
not specified 2 0 9 20 14 4 37
Carney-Stratakis syndrome 2 0 15 6 9 0 32
Pheochromocytoma 8 4 8 0 1 0 21
Gastrointestinal stromal tumor 2 1 4 5 1 0 13
Cowden syndrome 1 0 10 1 0 0 12
none provided 1 1 0 3 6 0 11
Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma 5 0 3 0 0 0 8
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 4 0 0 0 0 0 4
SDHB-Related Disorders 0 3 0 0 0 0 3
Carney triad 0 1 0 0 0 0 1
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1 0 0 0 0 0 1 1
Gastrointestinal stromal tumor; Hereditary Paraganglioma-Pheochromocytoma Syndromes 1 0 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Malignant tumor of breast 0 0 0 0 1 0 1
Mitochondrial complex II deficiency 0 0 1 0 0 0 1
Pheochromocytoma; Hereditary Paraganglioma-Pheochromocytoma Syndromes 1 0 0 0 0 0 1
Pheochromocytoma; Paraganglioma 0 0 0 1 0 0 1
Renal cell carcinoma, papillary, 1 0 0 1 0 0 0 1
Renal neoplasm 0 1 0 0 0 0 1
bilateral breast cancer 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 98 30 333 114 10 0 585
Ambry Genetics 64 29 97 42 7 0 239
GeneDx 30 3 6 25 3 0 67
Section on Medical Neuroendocrinolgy,National Institutes of Health 43 10 2 0 0 0 55
Illumina Clinical Services Laboratory,Illumina 0 1 15 6 9 0 31
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 2 3 5 9 0 24
OMIM 21 0 2 0 0 0 23
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 6 6 2 3 0 20
Integrated Genetics/Laboratory Corporation of America 5 1 2 1 6 1 16
Mendelics 1 1 8 5 1 0 16
Counsyl 1 2 5 5 1 0 14
Center for Human Genetics, Inc,Center for Human Genetics, Inc 8 1 1 0 0 0 10
PreventionGenetics, PreventionGenetics 0 0 0 0 9 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 1 1 3 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 2 4 0 0 9
Fulgent Genetics,Fulgent Genetics 5 0 3 0 0 0 8
Baylor Genetics 1 0 6 0 0 0 7
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 7 0 0 7
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 3 0 1 0 5
CSER _CC_NCGL, University of Washington 0 0 4 1 0 0 5
Athena Diagnostics Inc 0 2 1 0 1 0 4
Endocrinology Clinic, Seth G.S. Medical College 0 4 0 0 0 0 4
ITMI 0 0 0 0 0 4 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 1 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 1 0 0 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 1 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 1 0 3
Genetic Services Laboratory, University of Chicago 0 1 0 0 1 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 0 0 1 0 2
Academic Department of Medical Genetics, University of Cambridge 0 2 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 1 0 1 0 2
Snyder Lab, Genetics Department,Stanford University 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 1 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1

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