ClinVar Miner

Variants in gene SDHD

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
73 40 223 84 15 7 396

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 45 13 184 58 4 0 304
Hereditary cancer-predisposing syndrome 27 15 41 22 4 0 109
not provided 11 11 13 20 6 0 59
Hereditary Paraganglioma-Pheochromocytoma Syndromes 16 4 22 2 2 1 46
Paragangliomas 1 22 2 1 0 2 0 27
Pheochromocytoma 6 2 5 6 5 0 24
not specified 2 0 5 7 8 6 23
none provided 1 1 1 0 4 0 7
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 1 0 4 0 0 0 5
Carney-Stratakis syndrome 1 0 0 2 0 0 3
Carney-Stratakis syndrome; Pheochromocytoma; Mitochondrial complex II deficiency; Paragangliomas 1 1 0 2 0 0 0 3
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1 3 0 0 0 0 0 3
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 3 0 0 0 0 0 3
Pheochromocytoma; Paragangliomas 1 2 1 0 0 0 0 3
Cowden syndrome 3 0 0 2 0 0 0 2
Paragangliomas 1 with sensorineural hearing loss 2 0 0 0 0 0 2
Carcinoid tumor of intestine 0 0 1 0 0 0 1
Carotid body paraganglioma 1 0 0 0 0 0 1
Fatal infantile mitochondrial cardiomyopathy 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Mitochondrial complex II deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 13 188 62 4 0 314
Ambry Genetics 27 15 41 20 4 0 107
Illumina Clinical Services Laboratory,Illumina 0 0 20 8 7 0 35
OMIM 27 0 3 0 0 0 30
GeneDx 9 5 0 6 4 0 24
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 10 5 4 0 19
Section on Medical Neuroendocrinolgy,National Institutes of Health 12 2 5 0 0 0 19
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 1 3 1 5 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 1 1 0 6 0 13
Integrated Genetics/Laboratory Corporation of America 2 1 2 1 3 0 9
GeneReviews 6 0 0 0 0 0 6
ITMI 0 0 0 0 0 6 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 3 1 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 0 0 2 1 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 2 0 1 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 2 0 3
PreventionGenetics, PreventionGenetics 0 0 0 1 2 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Mendelics 0 0 0 2 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 2 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 1 0 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 1 0 0 0 0 0 1
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
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Genetics,Medical University of Vienna 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Rare Disease Group,University of Exeter 0 1 0 0 0 0 1

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