ClinVar Miner

Variants in gene SDHD

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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
98 58 328 187 26 11 631

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 62 12 257 142 7 0 480
Hereditary cancer-predisposing syndrome 44 21 125 64 4 0 256
not provided 17 17 41 17 17 0 101
Hereditary pheochromocytoma-paraganglioma 12 5 24 2 2 5 47
Paragangliomas 1 21 6 5 0 5 0 36
Mitochondrial complex 2 deficiency, nuclear type 3 5 2 20 0 3 0 30
not specified 1 0 10 8 9 5 29
Pheochromocytoma 5 5 5 5 7 0 27
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 6 1 5 0 0 0 12
SDHD-related condition 0 1 3 4 3 0 11
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3 1 1 3 1 0 0 6
Paragangliomas 3 0 0 0 0 4 0 4
Carney-Stratakis syndrome; Pheochromocytoma; Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 1 1 0 2 0 0 0 3
Carney-Stratakis syndrome 1 0 0 1 0 0 2
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1 2 0 0 0 0 0 2
Mitochondrial complex II deficiency, nuclear type 1 0 2 0 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
Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss 0 0 0 0 0 1 1
Cowden syndrome 3 0 0 1 0 0 0 1
Fatal infantile mitochondrial cardiomyopathy 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Paraganglioma 1 0 0 0 0 0 1
Paragangliomas 4 1 0 0 0 0 0 1
Pheochromocytoma; Paragangliomas 1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 67 14 259 142 7 0 488
Ambry Genetics 44 20 123 61 4 0 252
GeneDx 12 9 26 10 16 0 73
Illumina Laboratory Services, Illumina 0 0 20 7 7 0 34
Quest Diagnostics Nichols Institute San Juan Capistrano 1 1 16 6 4 0 28
OMIM 22 0 2 0 0 0 24
Baylor Genetics 1 2 20 0 0 0 23
Section on Medical Neuroendocrinolgy, National Institutes of Health 12 2 5 0 0 0 19
Sema4, Sema4 2 1 5 4 3 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 1 3 0 5 0 13
PreventionGenetics, part of Exact Sciences 0 1 3 5 4 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 3 1 4 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 2 1 2 0 10
Fulgent Genetics, Fulgent Genetics 2 1 5 1 0 0 9
Genetic Services Laboratory, University of Chicago 1 0 4 2 1 0 8
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 5 2 0 8
CeGaT Center for Human Genetics Tuebingen 0 1 2 3 0 0 6
MGZ Medical Genetics Center 1 3 1 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
ITMI 0 0 0 0 0 5 5
Color Diagnostics, LLC DBA Color Health 1 0 1 0 3 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 1 1 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 5 0 0 0 5
Revvity Omics, Revvity 1 1 2 0 0 0 4
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 4 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 0 1 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 1 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 1 1 0 3
Myriad Genetics, Inc. 3 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
3billion 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
deCODE genetics, Amgen 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
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1

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