ClinVar Miner

Variants studied for Hypoparathyroidism, deafness, renal disease syndrome

Coded as:
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
41 18 95 16 34 1 200

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GATA3 40 17 94 16 32 1 195
GATA3, LOC130003278 0 1 1 0 2 0 4
ACBD7, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ANKRD16, ARL5B, ASB13, ATP5F1C, BEND7, C1QL3, CACNB2, CALML3, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CUBN, DCLRE1C, DHTKD1, ECHDC3, FAM107B, FAM171A1, FBH1, FRMD4A, GATA3, GDI2, HACD1, HSPA14, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIN, MCM10, MEIG1, MINDY3, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, PFKFB3, PHYH, PRKCQ, PROSER2, PRPF18, PTER, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SLC39A12, ST8SIA6, STAM, SUV39H2, TAF3, TASOR2, TRDMT1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, VIM 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 44 2 33 0 79
Fulgent Genetics, Fulgent Genetics 1 3 41 15 0 0 60
OMIM 16 0 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 0 0 0 0 6
Institute of Rare Diseases, West China Hospital, Sichuan University 1 4 0 0 0 0 5
Mendelics 3 0 1 0 0 0 4
MVZ Medizinische Genetik Mainz 1 3 0 0 0 0 4
Revvity Omics, Revvity 1 0 2 0 0 0 3
3billion, Medical Genetics 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.