ClinVar Miner

Variants studied for familial primary hyperparathyroidism

Included ClinVar conditions (11):
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
431 165 1405 841 106 11 2786

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEN1 380 129 986 763 62 7 2182
CASR 26 20 176 33 19 4 276
CDC73 17 8 173 38 25 0 237
GCM2 2 8 67 6 0 0 81
MAP4K2, MEN1 4 0 0 0 0 0 4
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
STK11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 358 69 828 733 47 0 2035
Fulgent Genetics, Fulgent Genetics 21 25 280 49 3 0 378
All of Us Research Program, National Institutes of Health 7 2 172 101 2 0 284
Illumina Laboratory Services, Illumina 0 1 143 34 57 0 213
Baylor Genetics 10 8 155 0 0 0 173
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 22 1 1 0 2 55
OMIM 48 0 0 0 0 0 48
Myriad Genetics, Inc. 17 6 2 13 8 0 46
Mendelics 3 2 9 4 4 0 22
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
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
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
Revvity Omics, Revvity 1 1 6 0 0 0 8
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 8 0 0 0 8
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine 3 4 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 0 3 3 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 0 5 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
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 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 0 3 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
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 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
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 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
Suma Genomics 0 1 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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