ClinVar Miner

Variants in gene SDHA

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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
258 194 1838 1245 452 50 3324

Condition and significance breakdown #

Total conditions: 71
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paraganglioma syndrome 5 170 66 1367 925 53 5 2580
Hereditary cancer-predisposing syndrome 136 81 1067 672 43 0 1974
Pheochromocytoma/paraganglioma syndrome 5 85 67 68 171 403 1 756
not provided 35 39 298 113 43 2 485
Dilated cardiomyopathy 1GG 16 29 202 1 4 0 252
not specified 0 0 40 57 47 0 122
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5; Neurodegeneration with ataxia and late-onset optic atrophy 4 12 69 15 14 1 115
Mitochondrial complex II deficiency, nuclear type 1 12 11 55 14 14 0 103
SDHA-related disorder 10 5 24 50 6 0 95
Leigh syndrome 2 1 43 9 20 0 75
Hereditary pheochromocytoma and paraganglioma 1 2 16 10 43 1 72
Gastrointestinal stromal tumor 7 4 10 1 0 0 22
Neurodegeneration with ataxia and late-onset optic atrophy 8 5 6 0 4 0 22
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5 0 0 16 0 0 0 16
Hepatocellular carcinoma 0 0 0 0 0 10 10
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Lung cancer 0 0 0 0 0 6 6
Sarcoma 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 5 5
Inherited phaeochromocytoma and paraganglioma excluding NF1 1 2 2 0 0 0 5
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG 2 2 0 0 0 0 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Familial cancer of breast 1 0 0 0 0 2 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Neoplasm 0 2 1 0 0 0 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Carney triad 0 2 0 0 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Intellectual disability 0 0 2 0 0 0 2
Melanoma 0 0 0 0 0 2 2
Pulmonary artery atresia 2 0 0 0 0 0 2
Rhabdomyosarcoma 2 0 0 0 0 0 2
Sick sinus syndrome 2, autosomal dominant 0 0 1 1 0 0 2
Thymoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
B-lymphoblastic leukemia/lymphoma with hypodiploidy 0 0 1 0 0 0 1
Cancer or benign tumor 0 0 1 0 0 0 1
Cardiac arrhythmia 0 1 0 0 0 0 1
Childhood neoplasm 0 0 1 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 1 0 0 0 1
Dystonia, early-onset, and/or spastic paraplegia 0 0 1 0 0 0 1
Gastrointestinal stromal tumor; Hereditary pheochromocytoma and paraganglioma 0 0 0 1 0 0 1
Gastrointestinal stromal tumor; Mitochondrial complex II deficiency, nuclear type 1; Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma/paraganglioma syndrome 5 0 0 0 0 0 1 1
Hereditary renal cell carcinoma 0 0 1 0 0 0 1
Incidental Discovery 0 0 1 0 0 0 1
Leigh syndrome; Dilated cardiomyopathy 1GG 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic atrophy 0 0 1 0 0 0 1
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5 0 0 0 0 0 1 1
Multiple endocrine neoplasia type 2A 0 0 1 0 0 0 1
Neoplasm of brain 0 1 0 0 0 0 1
Opsoclonus-myoclonus syndrome 1 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Paraganglioma 0 0 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 1 1 0 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 0 0 1 0 0 0 1
Pheochromocytoma; Paraganglioma 1 0 0 0 0 0 1
Pilocytic astrocytoma 1 0 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Skeletal myopathy 0 0 1 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

Submitter and significance breakdown #

Total submitters: 106
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 170 66 1366 926 53 0 2581
Ambry Genetics 136 75 1055 665 29 0 1960
Myriad Genetics, Inc. 79 47 30 156 397 0 709
GeneDx 23 19 187 43 28 0 300
Baylor Genetics 16 29 202 0 0 0 247
Quest Diagnostics Nichols Institute San Juan Capistrano 9 8 109 33 32 0 191
PreventionGenetics, part of Exact Sciences 7 1 24 52 27 0 111
Fulgent Genetics, Fulgent Genetics 3 10 78 5 0 0 96
Sema4, Sema4 3 5 27 33 17 0 85
CeGaT Center for Human Genetics Tuebingen 6 6 18 48 5 0 83
Illumina Laboratory Services, Illumina 1 1 46 19 43 0 69
Counsyl 1 5 44 8 1 0 59
Mayo Clinic Laboratories, Mayo Clinic 1 2 20 16 20 0 59
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 4 24 14 0 0 52
Department of Pathology and Laboratory Medicine, Sinai Health System 3 3 14 15 16 0 51
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 4 10 27 0 44
Genetic Services Laboratory, University of Chicago 2 3 14 18 6 0 43
Breakthrough Genomics, Breakthrough Genomics 0 0 6 12 22 0 40
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 1 0 10 27 0 40
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 38 38
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 1 9 13 0 27
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 3 6 4 8 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 10 9 0 22
Revvity Omics, Revvity 2 4 16 0 0 0 22
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 4 1 16 0 0 0 21
“Giorgio Prodi” Cancer Research Center, University of Bologna 7 3 10 0 0 0 20
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 2 0 6 10 0 19
Molecular Pathology, Peter Maccallum Cancer Centre 4 3 9 1 0 0 17
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 3 11 0 0 0 16
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 0 0 14 0 14
OMIM 11 0 0 0 0 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 10 10
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 6 1 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 3 3 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 4 0 8
Mendelics 0 2 0 3 3 0 8
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 1 5 0 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 4 1 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 3 0 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 2 1 2 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 3 1 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 3 0 0 0 5
Dasa 2 2 1 0 0 0 5
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 4 1 0 0 0 0 5
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 2 2 0 1 0 5
Clinical Genomics Laboratory, Stanford Medicine 0 1 3 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 2 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 0 0 0 0 4
NHS Central & South Genomic Laboratory Hub 1 1 2 0 0 0 4
3billion 1 1 1 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 3 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 1 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 1 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 2 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1 0 0 2
Henan Key Laboratory of Chronic Disease Management, Central China Fuwai Hospital of Zhengzhou University, Fuwai Central China Cardiovascular Hospital & Central China Branch of National Center for Cardiovascular Diseases 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 1 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Section on Endocrinology and Genetics, National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
Arora Lab, Fox Chase Cancer Center 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Breast Care Center, Daerim St. Mary`s Hospital 1 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 1
Catlab - Consorci Sanitari de Terrassa 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 0 1 0 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department Of Pathology, Hubei Cancer Hospital 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Helix 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
KTest Genetics, KTest 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 1 0 0 0 0 1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1

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