ClinVar Miner

Variants studied for Bartter disease type 4A

Coded as:
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Gene type:
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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
13 4 40 14 13 80

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BSND 13 4 40 14 12 79
BSND, LOC129930596 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 1 24 2 12 40
Fulgent Genetics, Fulgent Genetics 4 1 12 13 1 31
OMIM 8 0 0 0 0 8
Genome-Nilou Lab 1 0 0 0 6 7
Revvity Omics, Revvity 1 2 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Athena Diagnostics 0 0 0 0 1 1
Mendelics 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 1
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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