ClinVar Miner

Variants in gene SLC26A2

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 total
42 74 179 93 40 361

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Multiple epiphyseal dysplasia type 4 6 48 137 12 18 219
Diastrophic dysplasia 12 39 115 12 26 202
Achondrogenesis, type IB 11 24 112 17 27 189
Atelosteogenesis type II 10 23 103 13 27 175
Osteochondrodysplasia 8 7 123 15 14 167
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 29 8 21 54 10 120
not provided 5 3 19 12 5 44
not specified 2 0 2 5 10 16
none provided 0 0 0 1 14 15
Achondrogenesis 0 0 6 2 1 9
Atelosteogenesis 0 0 6 2 1 9
SLC26A2-Related Disorders 3 0 2 0 0 5
3MC syndrome 2 3 1 0 0 0 4
Diastrophic dysplasia, broad bone-platyspondylic variant 1 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 1
de la Chapelle dysplasia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 3 0 126 29 28 157
Invitae 29 7 20 59 10 125
Counsyl 2 48 14 1 0 65
Natera, Inc. 4 0 11 5 7 27
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 4 2 15 23
GeneDx 3 1 1 5 10 20
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 8 1 6 20
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 18 0 0 0 19
Integrated Genetics/Laboratory Corporation of America 8 7 0 0 2 17
OMIM 15 0 0 0 0 15
GeneReviews 8 0 0 0 2 10
Baylor Genetics 5 0 1 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 2 4 6
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 5 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 2 0 0 5
Myriad Women's Health, Inc. 3 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 1 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Ambry Genetics 1 0 0 0 0 1
Mendelics 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1

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