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
142 139 248 109 32 41 8 1 539

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Pendred syndrome 52 106 182 24 15 0 0 0 345
Enlarged vestibular aqueduct 54 19 106 7 4 41 8 0 205
not provided 65 20 29 65 20 0 0 0 184
not specified 4 1 62 47 23 0 0 0 124
Rare genetic deafness 44 20 0 0 0 0 0 0 64
Enlarged vestibular aqueduct; Pendred syndrome 11 3 2 1 0 0 0 0 17
SLC26A4-Related Disorders 8 3 3 0 0 0 0 0 14
Deafness 4 0 0 0 0 0 0 0 4
Hearing impairment 0 2 1 0 0 0 0 0 3
Nonsyndromic Hearing Loss, Recessive 0 0 3 0 0 0 0 0 3
Autosomal recessive non-syndromic sensorineural deafness type DFNB 1 0 0 0 0 0 0 0 1
Hearing loss 0 0 0 0 0 0 0 1 1
Wolff-Parkinson-White pattern 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Counsyl 26 97 87 13 0 0 0 0 223
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 44 20 54 30 20 0 0 0 168
Invitae 54 8 0 59 19 0 0 0 140
Illumina Clinical Services Laboratory,Illumina 9 3 110 12 9 0 0 0 133
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 7 0 0 0 25
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 21 1 0 0 0 0 0 0 22
ClinGen Hearing Loss Variant Curation Expert Panel 4 5 4 2 4 0 0 0 19
Fulgent Genetics,Fulgent Genetics 10 3 2 1 0 0 0 0 16
Myriad Women's Health, Inc. 10 3 0 0 0 0 0 0 13
Baylor Genetics 8 3 0 0 0 0 0 0 11
Athena Diagnostics Inc 0 0 4 1 5 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 4 0 0 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
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
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 1 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
Division of Genomic Diagnostics,The 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
NxGen MDx 0 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.