ClinVar Miner

Variants studied for Familial acute necrotizing encephalopathy

Coded as:
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 risk factor not provided total
2 5 452 268 88 3 3 804

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RANBP2 2 5 443 268 88 3 3 795
CCDC138, EDAR, RANBP2 0 0 4 0 0 0 0 4
GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 0 2
BEND4 0 0 1 0 0 0 0 1
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 1 0 0 0 0 1
CCDC138, EDAR, LOC126806303, LOC129388897, LOC129388898, LOC129934529, RANBP2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 0 440 261 88 0 0 790
Fulgent Genetics, Fulgent Genetics 1 0 4 9 0 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 1 0 0 4
OMIM 0 0 0 0 0 3 0 3
Baylor Genetics 0 0 3 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 3 3
New York Genome Center 0 0 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 2
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 0 2 0 0 0 0 0 2
TIDEX, University of British Columbia 0 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1

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