ClinVar Miner

Variants studied for pseudohypoaldosteronism

Included ClinVar conditions (19):
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
141 71 2256 891 361 11 3536

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WNK1 36 13 1202 699 129 2 1991
WNK4 5 1 184 43 49 8 265
NR3C2 24 10 141 26 40 0 236
KLHL3 30 8 153 30 46 0 231
SCNN1A 16 10 163 16 13 0 212
SCNN1B 10 16 144 21 6 0 194
CUL3 16 8 104 31 43 0 178
SCNN1G 3 3 130 12 28 0 172
LOC126862568, WNK4 0 0 14 2 1 0 16
LOC129993215, NR3C2 0 0 6 2 1 0 9
LTBR, SCNN1A 0 0 2 4 2 0 8
STX16, STX16-NPEPL1 0 0 5 2 1 0 8
CUL3, LOC129935709 0 0 5 0 1 0 6
LOC130007151, WNK1 1 0 2 0 0 1 3
LOC130007233, SCNN1A, TNFRSF1A 0 0 0 2 0 0 2
SCNN1A, TNFRSF1A 0 0 0 1 1 0 2
ARHGAP10, NR3C2 0 1 0 0 0 0 1
DCLK2, NR3C2 0 1 0 0 0 0 1
LOC130007151, LOC130007152, WNK1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 35 9 977 666 65 0 1752
Fulgent Genetics, Fulgent Genetics 15 33 967 142 12 0 1169
Illumina Laboratory Services, Illumina 0 1 498 152 322 0 920
OMIM 57 0 0 0 0 0 57
Richard Lifton Laboratory, Yale University School of Medicine 39 0 0 0 0 0 39
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 32 2 0 0 35
Genome-Nilou Lab 0 0 0 0 17 0 17
Johns Hopkins Genomics, Johns Hopkins University 1 1 8 1 1 0 12
GeneReviews 0 0 0 0 0 10 10
Baylor Genetics 1 3 3 0 0 0 7
Mendelics 2 2 1 0 2 0 7
Revvity Omics, Revvity 0 1 4 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
3billion 1 0 2 1 0 0 4
MVZ Medizinische Genetik Mainz 2 1 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Ben Taub Pediatrics - Newborn, Baylor College of Medicine 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Khatam Pathobiology and Genetic Lab 0 0 1 0 0 0 1

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