ClinVar Miner

Variants studied for benign endocrine neoplasm

Included ClinVar conditions (23):
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
185 76 786 217 126 1 1379

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHB 99 34 336 99 10 1 577
SDHD 48 14 192 64 8 0 323
RET 10 1 91 24 47 0 172
TMEM127 4 20 74 13 28 0 133
MAX 0 0 30 8 24 0 62
KIF1B 1 0 21 4 2 0 28
SDHC 0 0 21 2 2 0 25
LOC106736614, RET 0 0 5 1 2 0 8
LOC107303340, VHL 2 4 2 0 0 0 8
VHL 3 2 3 0 0 0 8
HNF1A 4 0 2 0 0 0 6
SDHAF2 0 0 6 0 0 0 6
SDHA 1 0 2 2 0 0 5
ATP1A1 3 0 0 0 0 0 3
ATP2B3 3 0 0 0 0 0 3
MEN1 3 0 0 0 0 0 3
ALG9, BTG4, C11orf1, C11orf52, COLCA2, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, LOC728196, MIR34B, MIR34C, NKAPD1, PIH1D2, POU2AF1, PPP2R1B, SDHD, SIK2, TIMM8B 1 0 1 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 2
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
PADI2, SDHB 1 0 0 0 0 0 1
SDHD, TIMM8B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 147 43 522 156 13 0 881
Illumina Clinical Services Laboratory,Illumina 0 0 232 55 113 0 400
Fulgent Genetics,Fulgent Genetics 12 2 31 0 0 0 45
OMIM 29 0 0 0 0 0 29
Familial Cancer Clinic,Veneto Institute of Oncology 0 19 0 0 0 0 19
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 10
Baylor Genetics 1 1 6 0 0 0 8
CSER _CC_NCGL, University of Washington 0 0 4 3 0 0 7
Institute of Human Genetics, Klinikum rechts der Isar 6 0 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 2 0 0 0 5
Mendelics 1 0 1 1 0 0 3
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 1 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 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
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1

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