ClinVar Miner

Variants studied for familial hypocalciuric hypercalcemia

Included ClinVar conditions (10):
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
150 81 1284 718 37 5 2211

Gene and significance breakdown #

Total genes and gene combinations: 5
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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
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

Submitter and significance breakdown #

Total submitters: 32
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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 11 6 83 47 1 0 148
Illumina Laboratory Services, Illumina 1 0 39 11 12 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 32 0 3 1 0 57
OMIM 27 0 0 0 0 0 27
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 8 7 1 0 0 0 16
Mendelics 2 2 2 1 3 0 10
Genome-Nilou Lab 0 0 0 0 6 0 6
Institute of Human Genetics, Cologne University 0 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 2 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 3 1 1 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 2 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 2 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Baylor Genetics 1 0 1 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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