ClinVar Miner

Variants in gene SDHA

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
86 60 863 385 70 1 1318

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mitochondrial complex II deficiency; Paragangliomas 5 67 30 755 275 25 0 1152
Hereditary cancer-predisposing syndrome 27 18 207 136 26 0 414
not provided 11 9 32 56 5 0 112
Mitochondrial complex II deficiency 8 4 52 16 12 0 90
Leigh syndrome 1 1 46 10 20 0 78
not specified 0 0 4 50 32 0 73
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 14 10 43 0 67
Paragangliomas 5 7 5 44 9 1 0 64
Leigh syndrome; Mitochondrial complex II deficiency; Dilated cardiomyopathy 1GG; Paragangliomas 5 1 0 18 0 0 0 19
none provided 0 0 0 0 15 0 15
Pheochromocytoma 0 0 2 2 0 0 4
Dilated cardiomyopathy 1GG 1 0 1 1 0 0 3
SDHA-Related Disorders 0 1 2 0 0 0 3
Carney triad 0 2 0 0 0 0 2
Rhabdomyosarcoma (disease) 2 0 0 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 0 0 1 0 0 0 1
Hereditary renal cell carcinoma 0 0 1 0 0 0 1
Leigh syndrome; Dilated cardiomyopathy 1GG 0 0 0 0 0 1 1
NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY 1 0 0 0 0 0 1
Pheochromocytoma; Paraganglioma 1 0 0 0 0 0 1
Pilocytic astrocytoma 1 0 0 0 0 0 1
Skeletal myopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 67 30 755 297 25 0 1174
Ambry Genetics 27 18 207 136 26 0 414
GeneDx 9 6 12 42 14 0 83
Illumina Clinical Services Laboratory,Illumina 0 0 50 21 43 0 73
Counsyl 1 5 44 8 1 0 59
PreventionGenetics, PreventionGenetics 0 0 0 3 23 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 13 5 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 1 19 0 21
Fulgent Genetics,Fulgent Genetics 1 0 18 0 0 0 19
Genetic Services Laboratory, University of Chicago 0 0 4 11 0 0 15
OMIM 11 0 0 0 0 0 11
Mendelics 0 1 0 3 3 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 5 2 0 0 7
Baylor Genetics 1 1 3 0 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 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 Pediatrics,Memorial Sloan Kettering Cancer Center 3 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 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
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Arora Lab,Fox Chase Cancer Center 0 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Clinical Genetics Laboratory,Emek Medical Center 0 1 0 0 0 0 1

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