ClinVar Miner

Variants studied for benign endocrine neoplasm

Included ClinVar conditions (34):
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
349 132 1686 740 176 2 3031

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHB 172 47 546 350 19 1 1125
SDHD 78 23 273 165 12 0 544
RET 15 7 314 87 75 0 480
TMEM127 7 21 118 16 26 0 177
HNF1A 13 11 93 16 1 0 134
LOC126861339, SDHD 20 2 48 35 2 0 106
MAX 1 1 50 9 19 0 77
VHL 5 4 51 5 1 0 66
LOC129929542, SDHB 6 0 28 29 0 0 63
KIF1B 0 0 44 4 6 0 54
LOC107303340, VHL 7 10 30 4 0 0 50
LOC129934333, TMEM127 2 5 24 0 2 1 32
SDHC 0 0 21 2 2 0 25
C12orf43, HNF1A 0 0 13 0 0 0 13
LOC106736614, RET 0 0 8 3 2 0 13
LOC129929541, SDHB 2 0 2 9 0 0 13
LOC130055850, MAX 0 0 6 1 5 0 12
SDHAF2 0 0 6 0 0 0 6
SDHA 1 0 2 2 0 0 5
ALG9, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, SDHD, SIK2, TIMM8B 3 0 1 0 0 0 4
LOC129929541, LOC129929542, SDHB 2 0 2 0 0 0 4
ATP1A1 3 0 0 0 0 0 3
ATP2B3 3 0 0 0 0 0 3
MEN1 3 0 0 0 0 0 3
CHURC1-FNTB, FNTB, LOC126861966, MAX 0 0 1 1 0 0 2
KIF1B, LOC126805614 0 0 2 0 0 0 2
KIF1B, LOC129388446 0 0 1 1 0 0 2
MPZ, SDHC 0 0 0 0 2 0 2
ADRA2B, ASTL, DUSP2, GPAT2, STARD7, TMEM127 0 0 1 0 0 0 1
CASR 0 1 0 0 0 0 1
CDC73 1 0 0 0 0 0 1
CFAP126, SDHC 0 0 0 0 1 0 1
CIAO1, LOC129934333, TMEM127 0 0 0 0 1 0 1
GJA4 1 0 0 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 0 1
KIF1B, LOC129929363 0 0 0 1 0 0 1
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 1
LOC129929542, LOC129929543, SDHB 1 0 0 0 0 0 1
MINPP1 1 0 0 0 0 0 1
NF1 1 0 0 0 0 0 1
SDHD, TIMM8B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 284 60 891 578 27 0 1839
Fulgent Genetics, Fulgent Genetics 29 23 452 95 3 0 602
Illumina Laboratory Services, Illumina 0 0 232 55 113 0 400
Baylor Genetics 6 1 91 0 0 0 98
Department of Pathology and Laboratory Medicine, Sinai Health System 9 5 17 8 8 0 47
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 0 2 0 38 0 42
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 34 1 0 0 35
Familial Cancer Clinic, Veneto Institute of Oncology 0 19 0 0 0 0 19
OMIM 18 0 0 0 0 0 18
Genome-Nilou Lab 0 0 0 0 15 0 15
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 10
CSER _CC_NCGL, University of Washington 0 0 4 3 0 0 7
MGZ Medical Genetics Center 2 3 1 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 4 2 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 2 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 1 0 4
deCODE genetics, Amgen 0 4 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 0 0 0 0 4
Mendelics 1 0 1 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
3billion 1 0 2 0 0 0 3
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 2 0 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 1 1 0 2
New York Genome Center 1 1 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Medicine, University of Texas Health Science Center at San Antonio 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Keith Choate Laboratory, Yale University 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 0 1 0 0 0 1

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