ClinVar Miner

Variants in gene GJB4

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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
7 2 66 18 29 108

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 1 26 13 29 68
Inborn genetic diseases 0 0 38 0 0 38
Erythrokeratodermia variabilis et progressiva 2 7 1 7 4 0 17
GJB4-related disorder 0 0 0 5 3 8
not specified 0 0 2 0 4 6
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A 0 0 1 0 0 1
Erythrokeratodermia variabilis et progressiva 1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 16 11 26 53
Ambry Genetics 0 0 38 0 0 38
GeneDx 1 1 12 0 8 22
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 18 21
PreventionGenetics, part of Exact Sciences 0 0 0 5 3 8
OMIM 6 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 5
Eurofins Ntd Llc (ga) 0 0 1 0 3 4
CeGaT Center for Human Genetics Tuebingen 0 0 2 2 0 4
Mendelics 1 0 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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