ClinVar Miner

Variants studied for hyperparathyroidism

Included ClinVar conditions (16):
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
404 162 1200 764 99 11 2484

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEN1 350 117 926 686 55 7 2014
CASR 21 12 113 32 19 4 200
CDC73 16 6 138 38 25 0 199
GCM2 2 3 13 6 0 0 23
TRPV6 6 10 6 1 0 0 20
RET 0 14 0 0 0 0 14
MAP4K2, MEN1 4 0 0 0 0 0 4
CDKN1B 2 0 1 0 0 0 3
B3GALT2, CDC73 0 0 1 1 0 0 2
ATM, C11orf65 0 0 1 0 0 0 1
B3GALT2, CDC73, GLRX2, LINC01031, LINC02770, LOC111556116, LOC120893169, LOC122149332, LOC122149333, LOC122149334, LOC126805961, LOC126805962, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC132088601, LOC132088602, LOC132090670, MIR1278, MIR4426, RGS1, RGS13, RGS18, RGS2, RGS21, RO60, SCARNA18B, UCHL5 1 0 0 0 0 0 1
BAD, CATSPERZ, CCDC88B, COX8A, DNAJC4, ESRRA, FERMT3, FKBP2, FLRT1, GPR137, KCNK4, MACROD1, MAP4K2, MEN1, NRXN2, NUDT22, OTUB1, PLCB3, PPP1R14B, PRDX5, PYGM, RASGRP2, RPS6KA4, SF1, SLC22A11, SLC22A12, STIP1, TRMT112, TRPT1, VEGFB 1 0 0 0 0 0 1
PTH 1 0 0 0 0 0 1
STK11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 324 59 789 650 40 0 1862
Illumina Laboratory Services, Illumina 0 1 164 42 57 0 223
All of Us Research Program, National Institutes of Health 5 0 127 88 2 0 222
Fulgent Genetics, Fulgent Genetics 12 7 112 48 3 0 182
Baylor Genetics 10 8 157 0 0 0 175
OMIM 55 0 0 0 0 0 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 22 1 1 0 2 55
Myriad Genetics, Inc. 17 6 2 13 8 0 46
Mendelics 4 2 9 4 4 0 23
Counsyl 0 2 6 9 2 0 19
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 9 8 0 18
Color Diagnostics, LLC DBA Color Health 1 0 1 7 8 0 17
Database of Curated Mutations (DoCM) 0 14 0 0 0 0 14
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 5 5 2 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 1 2 2 1 0 11
Revvity Omics, Revvity 2 1 7 0 0 0 10
MGZ Medical Genetics Center 3 5 2 0 0 0 10
Center for Human Genetics, Inc, Center for Human Genetics, Inc 4 3 1 1 0 0 9
Genetics and Molecular Pathology, SA Pathology 0 3 3 1 0 0 7
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine 3 4 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 0 5 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 6 0 0 0 0 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 1 0 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 1 4 0 0 5
Endocrine Unit 2, University Hospital of Pisa 3 0 2 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 1 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 0 0 0 0 4
Suma Genomics 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 1 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 1 0 0 0 2
Human Genetics Unit, University Of Colombo 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Exeter Molecular Genetics Laboratory 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Labor Lademannbogen MVZ GmbH 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Hospital of China Medical University 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1

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