ClinVar Miner

Variants studied for hypoparathyroidism-deafness-renal disease syndrome

Included ClinVar conditions (1):
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
37 10 59 12 34 1 150

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 36 10 58 12 32 1 146
GATA3, LOC130003278 0 0 1 0 2 0 3
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: 31
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
OMIM 16 0 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 0 0 5 10 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 0 0 0 0 6
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 1 1 1 0 0 0 3
Baylor Genetics 0 1 1 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 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
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
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

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.