ClinVar Miner

Variants studied for benign endocrine neoplasm

Included ClinVar conditions (35):
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
343 127 1680 734 153 2 2998

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 12 6 313 84 53 0 461
TMEM127 7 21 117 15 26 0 176
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
LOC129929542, SDHB 6 0 28 29 0 0 63
VHL 4 3 49 3 0 0 59
KIF1B 0 0 44 4 6 0 54
LOC107303340, VHL 5 7 28 4 0 0 44
LOC129934333, TMEM127 2 5 24 0 3 1 33
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
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
CHURC1-FNTB, FNTB, LOC126861966, MAX 0 0 0 1 0 0 1
DDX46 0 0 1 0 0 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: 48
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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
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
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 0 2 0 5 0 9
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
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 0 0 3
Mendelics 1 0 1 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 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
3billion, Medical Genetics 0 0 2 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 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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