ClinVar Miner

Variants studied for familial hypoparathyroidism

Included ClinVar conditions (13):
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 64 1462 778 60 4 2466

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CASR 168 49 1330 749 44 4 2259
GCM2 8 11 94 11 8 0 131
GNA11 5 3 29 18 1 0 55
PTH 3 1 6 0 7 0 17
LOC107988023, PTH 0 0 2 0 0 0 2
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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 146 29 1250 736 28 0 2189
Fulgent Genetics, Fulgent Genetics 17 22 231 51 1 0 322
Illumina Laboratory Services, Illumina 0 1 82 21 41 0 128
OMIM 35 0 0 0 0 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 2 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Genetics and Molecular Pathology, SA Pathology 1 2 2 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Center for Bone Health, The Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
3billion, Medical Genetics 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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