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
24 4 197 52 38 1 282

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 13 3 158 0 2 1 176
not specified 0 0 16 31 37 0 75
Nonsyndromic Hearing Loss, Dominant 0 0 32 27 1 0 60
Progressive familial intrahepatic cholestasis 4 11 1 0 0 0 0 12
Deafness, autosomal dominant 51 2 0 0 0 0 0 2
Hypercholanemia, familial; Progressive familial intrahepatic cholestasis 4 0 1 1 0 0 0 2
Hypercholanemia, familial 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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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
Illumina Clinical Services Laboratory,Illumina 0 0 32 27 1 0 60
PreventionGenetics 0 0 0 5 25 0 30
GeneDx 1 2 1 10 12 0 26
OMIM 8 0 0 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
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
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Athena Diagnostics Inc 0 0 0 0 1 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
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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