ClinVar Miner

Variants studied for autosomal dominant hypocalcemia

Included ClinVar conditions (9):
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
138 42 1274 709 34 4 2163

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CASR 132 41 1265 693 33 4 2131
GNA11 5 1 8 16 1 0 30
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: 26
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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 10 6 82 42 1 0 141
Illumina Laboratory Services, Illumina 0 1 39 9 11 0 60
OMIM 26 0 0 0 0 0 26
Genetics and Molecular Pathology, SA Pathology 1 2 2 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
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
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
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 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
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
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

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