ClinVar Miner

Variants studied for hypercalcemia disease

Included ClinVar conditions (17):
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
181 108 1393 749 67 5 2424

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CASR 142 81 1272 697 35 5 2168
CYP24A1 18 10 79 17 26 0 142
SLC34A1 13 17 30 13 4 0 70
GNA11 4 0 9 16 1 0 30
AP2S1 3 0 2 5 1 0 11
ADCY5, CASR, CCDC14, CD86, CSTA, DTX3L, EAF2, FAM162A, HACD2, HEG1, HSPBAP1, ILDR1, IQCB1, ITGB5, KALRN, KPNA1, MIX23, MUC13, MYLK, OSBPL11, PARP14, PARP15, PARP9, PDIA5, ROPN1, SEC22A, SEMA5B, SLC12A8, SLC15A2, SLC49A4, SNX4, UMPS, WDR5B, ZNF148 0 0 1 0 0 0 1
CASR, CSTA 1 0 0 0 0 0 1
F12, SLC34A1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 111 32 1229 682 26 0 2080
Fulgent Genetics, Fulgent Genetics 16 10 115 73 3 0 217
Illumina Laboratory Services, Illumina 4 2 102 16 38 0 162
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 33 0 3 1 0 61
OMIM 40 0 0 0 0 0 40
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 11 8 2 0 0 0 21
Mendelics 2 2 2 1 3 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 3 4 0 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 10
Revvity Omics, Revvity 4 1 4 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 5 4 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 4 3 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 3 1 2 1 0 0 7
Baylor Genetics 1 1 4 0 0 0 6
Institute of Human Genetics, Cologne University 0 1 5 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 2 4 0 0 0 6
MVZ Medizinische Genetik Mainz 3 1 1 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 4
3billion 1 1 2 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Molecular Genetics, Royal Melbourne Hospital 2 1 1 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 2 0 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 0 2 0 0 0 2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
MK Azim Lab, Mohammad Ali Jinnah University 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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