ClinVar Miner

Variants in gene SLC26A4

Minimum submission review status: Collection method:
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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 not provided total
117 131 189 55 22 1 426

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pendred syndrome 45 102 125 17 3 0 277
not specified 4 1 58 43 22 0 115
not provided 31 10 24 5 5 0 75
Enlarged vestibular aqueduct; Pendred syndrome 45 22 2 1 0 0 68
Enlarged vestibular aqueduct 47 18 3 0 0 0 61
Nonsyndromic Hearing Loss, Recessive 0 0 41 4 0 0 45
SLC26A4-Related Disorders 8 3 3 0 0 0 14
Deafness 4 0 0 0 0 0 4
Hearing impairment 0 2 1 0 0 0 3
Autosomal recessive non-syndromic sensorineural deafness type DFNB 1 0 0 0 0 0 1
Hearing loss 0 0 0 0 0 1 1
Wolff-Parkinson-White pattern 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 21 99 86 13 0 0 219
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 43 20 52 27 20 0 162
Illumina Clinical Services Laboratory,Illumina 9 3 44 4 0 0 60
GeneDx 25 8 2 16 3 0 54
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 10 0 14 8 11 0 43
OMIM 30 0 0 0 0 0 30
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 14 15 0 0 0 0 29
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 21 1 0 0 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 6 1 7 3 3 0 20
Fulgent Genetics 10 3 2 1 0 0 16
ClinGen Hearing Loss Variant Curation Expert Panel, 4 2 2 0 3 0 11
GeneReviews 7 0 0 0 0 0 7
Hereditary Research Laboratory,Bethlehem University 6 0 0 0 0 0 6
Gharavi Laboratory,Columbia University 0 0 5 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 2 0 4
Center for Statistical Genetics,Baylor College of Medicine 4 0 0 0 0 0 4
Athena Diagnostics Inc 0 0 0 0 3 0 3
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 1 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 1 0 0 0 3
PreventionGenetics 0 0 0 0 2 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 0 0 1
Hereditary Hearing Loss Research Unit,University of Madras 1 0 0 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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