ClinVar Miner

Variants in gene SDHB

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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
118 60 205 75 15 6 418

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 43 12 158 36 7 0 256
Hereditary cancer-predisposing syndrome 52 25 50 28 6 0 161
Hereditary Paraganglioma-Pheochromocytoma Syndromes 43 16 3 0 0 1 60
not provided 32 5 15 3 5 0 55
Paragangliomas 4 27 10 7 5 2 0 48
Pheochromocytoma 7 4 11 11 2 0 35
not specified 1 0 7 20 13 4 34
Paraganglioma and gastric stromal sarcoma 2 0 9 10 1 0 22
Cowden syndrome 1 1 12 1 0 0 15
Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma 5 0 3 0 0 0 8
Gastrointestinal stroma tumor 1 1 1 0 0 0 3
SDHB-Related Disorders 0 3 0 0 0 0 3
Carney triad 0 1 0 0 0 0 1
Gastrointestinal stroma tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1 0 0 0 0 0 1 1
Pheochromocytoma; Hereditary Paraganglioma-Pheochromocytoma Syndromes 1 0 0 0 0 0 1
Renal cell carcinoma, papillary, 1 0 0 1 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 50 19 158 36 7 0 270
Ambry Genetics 52 25 50 21 6 0 154
GeneDx 30 3 5 18 1 0 57
Section on Medical Neuroendocrinolgy,National Institutes of Health 43 10 2 0 0 0 55
Illumina Clinical Services Laboratory,Illumina 0 1 9 11 1 0 22
OMIM 17 0 3 0 0 0 20
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 6 5 2 3 0 18
Counsyl 1 2 5 5 1 0 14
Mendelics 1 1 12 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 3 2 4 0 13
Center for Human Genetics, Inc 8 1 1 0 0 0 10
PreventionGenetics 0 0 0 0 9 0 9
Integrated Genetics/Laboratory Corporation of America 1 1 1 1 4 1 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 1 1 3 0 9
Fulgent Genetics 5 0 3 0 0 0 8
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 7 0 0 7
CSER_CC_NCGL; University of Washington Medical Center 0 0 4 1 0 0 5
Athena Diagnostics Inc 0 2 1 0 1 0 4
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 3 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
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 1 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 1 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 0 0 0 0 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
IntelligeneCG 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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