ClinVar Miner

Variants in gene BSND

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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
30 14 122 211 31 362

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 24 8 67 199 30 312
Bartter disease type 4A 13 6 39 14 12 79
Bartter syndrome 6 2 19 19 3 48
not specified 0 0 20 20 8 46
Inborn genetic diseases 0 0 27 5 0 32
BSND-related disorder 1 0 0 8 0 9
Bartter syndrome type 4 1 1 0 0 0 2
Hearing impairment 1 0 1 0 0 2
Hearing loss, autosomal recessive 1 1 0 0 0 2
Sensorineural deafness with mild renal dysfunction 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 22 7 45 181 12 267
GeneDx 5 2 26 23 23 79
Natera, Inc. 2 2 19 19 2 44
Illumina Laboratory Services, Illumina 1 1 22 2 12 38
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 12 16 7 35
Ambry Genetics 0 0 27 5 0 32
Fulgent Genetics, Fulgent Genetics 4 1 12 13 1 31
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 14 21
PreventionGenetics, part of Exact Sciences 1 0 0 8 5 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 9 1 0 14
OMIM 10 0 0 0 0 10
Eurofins Ntd Llc (ga) 0 0 6 0 3 9
Genome-Nilou Lab 1 0 0 0 6 7
Athena Diagnostics 0 0 1 0 3 4
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 1 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 2 0 0 4
Revvity Omics, Revvity 1 2 0 0 0 3
Mendelics 1 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 2
Laboratory of Molecular Genetics, CHU Rennes 0 2 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 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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