ClinVar Miner

Variants in gene SLC4A11

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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
110 72 256 745 72 1151

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 94 38 79 727 58 988
Corneal dystrophy-perceptive deafness syndrome 19 14 16 41 53 143
Inborn genetic diseases 0 0 91 15 0 106
Corneal dystrophy 0 0 79 4 12 95
Congenital hereditary endothelial dystrophy of cornea 17 6 7 1 23 51
Corneal dystrophy-perceptive deafness syndrome; Congenital hereditary endothelial dystrophy of cornea; Corneal dystrophy, Fuchs endothelial, 4 8 27 13 0 0 48
not specified 0 0 19 2 12 33
SLC4A11-related disorder 1 1 1 14 4 21
Corneal dystrophy, Fuchs endothelial, 4 4 0 0 0 0 4
Corneal Dystrophy, Recessive 0 0 1 0 0 1
Posterior polymorphous corneal dystrophy 1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 91 34 65 720 47 957
Ambry Genetics 0 0 91 15 0 106
Natera, Inc. 8 4 14 41 36 103
Illumina Laboratory Services, Illumina 0 0 80 4 12 96
Fulgent Genetics, Fulgent Genetics 8 26 7 0 0 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 10 19 2 1 37
PreventionGenetics, part of Exact Sciences 1 1 1 14 14 31
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 26 31
Genome-Nilou Lab 0 0 0 2 23 25
OMIM 20 0 0 0 0 20
CeGaT Center for Human Genetics Tuebingen 2 0 6 9 0 17
GeneDx 1 1 5 0 5 12
Athena Diagnostics 0 0 2 2 7 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 7 0 0 8
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute 2 1 2 0 0 5
3billion 1 1 2 0 0 4
Revvity Omics, Revvity 1 2 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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