ClinVar Miner

Variants studied for pseudohypoaldosteronism, type IB1, autosomal recessive

Included ClinVar conditions (4):
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 total
17 14 257 50 50 380

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SCNN1A 16 10 162 16 13 211
SCNN1G 0 2 41 11 28 80
SCNN1B 1 2 52 16 6 77
LTBR, SCNN1A 0 0 2 4 2 8
LOC130007233, SCNN1A, TNFRSF1A 0 0 0 2 0 2
SCNN1A, TNFRSF1A 0 0 0 1 1 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 139 32 41 212
Fulgent Genetics, Fulgent Genetics 5 8 120 22 2 157
Genome-Nilou Lab 0 0 0 0 10 10
Johns Hopkins Genomics, Johns Hopkins University 0 1 4 0 1 6
OMIM 5 0 0 0 0 5
Mendelics 2 0 1 0 2 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 4
3billion 1 0 1 1 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 1

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