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
41 33 413 217 40 1 676

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mitochondrial complex II deficiency; Paragangliomas 5 20 11 343 151 19 0 544
Hereditary cancer-predisposing syndrome 17 11 98 63 25 0 214
not specified 0 0 4 50 30 0 71
Paragangliomas 5 7 6 44 8 1 0 65
Mitochondrial complex II deficiency 6 1 16 27 0 0 50
not provided 8 7 17 3 14 0 49
Leigh syndrome 0 0 17 27 0 0 44
Pheochromocytoma 0 0 15 27 0 0 42
Leigh syndrome; Mitochondrial complex II deficiency; Dilated cardiomyopathy 1GG; Paragangliomas 5 1 0 18 0 0 0 19
Carney triad 0 2 0 0 0 0 2
SDHA-Related Disorders 0 0 2 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 0 0 1 0 0 0 1
Dilated cardiomyopathy 1GG 1 0 0 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
Pilocytic astrocytoma 1 0 0 0 0 0 1
Skeletal myopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 12 343 151 19 0 546
Ambry Genetics 17 11 98 63 25 0 214
GeneDx 8 6 12 38 14 0 78
Counsyl 1 5 44 8 1 0 59
Illumina Clinical Services Laboratory,Illumina 0 0 17 27 0 0 44
PreventionGenetics 0 0 0 3 23 0 26
Fulgent Genetics 1 0 18 0 0 0 19
Genetic Services Laboratory, University of Chicago 0 0 4 11 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 1 10 0 12
OMIM 10 0 0 0 0 0 10
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
GeneReviews 3 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 0 0 0 3
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 3 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 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
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
Mendelics 0 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Blueprint Genetics, 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 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

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