ClinVar Miner

Variants in gene SLC26A4

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 affects other not provided total
192 167 266 169 34 41 8 1 665

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Pendred syndrome 66 110 199 34 24 0 0 0 377
not provided 109 35 33 129 20 0 0 0 308
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 68 25 108 7 4 41 8 0 226
not specified 4 0 63 47 23 0 0 0 124
Rare genetic deafness 44 20 0 0 0 0 0 0 64
Autosomal recessive nonsyndromic deafness 1 17 0 0 0 0 0 0 18
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Pendred syndrome 11 3 2 1 0 0 0 0 17
SLC26A4-Related Disorders 8 4 3 0 0 0 0 0 15
Hearing impairment 3 4 5 1 0 0 0 0 13
none provided 0 1 0 1 5 0 0 0 7
Deafness 4 0 0 0 0 0 0 0 4
Nonsyndromic Hearing Loss, Recessive 0 0 3 0 0 0 0 0 3
Congenital hypothyroidism 0 0 0 0 1 0 0 0 1
Hearing loss 0 0 0 0 0 0 0 1 1
Primary autosomal recessive microcephaly 5 0 0 0 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Invitae 102 23 1 123 19 0 0 0 268
Counsyl 16 94 87 13 0 0 0 0 210
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 44 20 55 30 20 0 0 0 169
Illumina Clinical Services Laboratory,Illumina 9 3 110 12 9 0 0 0 133
Natera, Inc. 29 2 25 10 12 0 0 0 78
GeneDx 26 9 2 18 5 0 0 0 60
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 4 1 1 0 0 41 8 0 55
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 10 0 14 8 11 0 0 0 43
OMIM 30 0 0 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 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 6 1 8 3 9 0 0 0 27
ClinGen Hearing Loss Variant Curation Expert Panel 5 7 4 3 5 0 0 0 24
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 21 1 0 0 0 0 0 0 22
Baylor Genetics 11 3 3 0 0 0 0 0 17
University of Washington Center for Mendelian Genomics, University of Washington 0 17 0 0 0 0 0 0 17
Fulgent Genetics,Fulgent Genetics 10 3 2 1 0 0 0 0 16
Precision Medicine Center,Zhengzhou University 11 4 0 0 0 0 0 0 15
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 6 4 4 1 0 0 0 0 15
Myriad Women's Health, Inc. 10 3 0 0 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 5 0 0 0 0 0 11
Athena Diagnostics Inc 0 0 4 1 5 0 0 0 10
GeneReviews 7 0 0 0 0 0 0 0 7
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 7 0 0 0 0 0 0 0 7
The Core Laboratory in Medical Center of Clinical Research,Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 6 0 0 0 1 0 0 0 7
Hereditary Research Laboratory, Bethlehem University 6 0 0 0 0 0 0 0 6
Gharavi Laboratory,Columbia University 0 0 5 0 0 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 2 0 0 0 4
Laboratory of Prof. Karen Avraham,Tel Aviv University 4 0 0 0 0 0 0 0 4
Center for Statistical Genetics, Columbia University 4 0 0 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 0 0 0 4
Mendelics 0 0 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 1 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 2 0 0 0 0 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 1 0 0 0 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 1 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 1 0 0 0 2
NxGen MDx 0 1 1 0 0 0 0 0 2
Nilou-Genome Lab 0 1 0 1 0 0 0 0 2
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 1 1 0 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Hereditary Hearing Loss Research Unit,University of Madras 1 0 0 0 0 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 0 0 1
Polak associated Lab,IMAGINE Institute 0 0 0 0 1 0 0 0 1
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research 0 1 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 0 1
Medical Genetics Lab, Xi'an Fourth Hospital 0 1 0 0 0 0 0 0 1

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