ClinVar Miner

Variants in gene TJP2

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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
39 14 181 53 43 1 297

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 16 4 161 28 27 1 222
not specified 0 0 15 31 37 0 74
Progressive familial intrahepatic cholestasis 4 22 7 1 0 0 0 30
Nonsyndromic Hearing Loss, Dominant 0 0 6 0 0 0 6
Hypercholanemia, familial; Progressive familial intrahepatic cholestasis 4 0 3 1 0 0 0 4
Deafness, autosomal dominant 51 3 0 0 0 0 0 3
Hearing impairment 0 0 3 0 0 0 3
Hypercholanemia, familial 1 0 1 0 0 0 2
Inborn genetic diseases 1 0 1 0 0 0 2
Melnick-Fraser syndrome 0 1 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 12 0 156 6 11 0 185
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 15 17 28 0 60
Invitae 3 0 0 21 18 0 42
GeneDx 1 2 1 16 16 0 36
PreventionGenetics, PreventionGenetics 0 0 0 5 25 0 30
The Center for Liver Diseases, Children's Hospital of Fudan University 10 3 0 0 0 0 13
Athena Diagnostics Inc 0 0 2 0 9 0 11
OMIM 8 0 0 0 0 0 8
Illumina Clinical Services Laboratory,Illumina 0 0 6 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 2 0 0 6
Baylor Genetics 3 0 2 0 0 0 5
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 1 3 0 0 0 4
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 0 0 3
Ambry Genetics 1 0 1 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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