ClinVar Miner

Variants studied for encephalopathy, acute, infection-induced

Included ClinVar conditions (1):
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 risk factor not provided total
2 6 454 268 88 3 3 807

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 6 443 268 88 3 3 796
CCDC138, EDAR, RANBP2 0 0 5 0 0 0 0 5
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 0 2
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, LOC126806303, LOC129388897, LOC129388898, LOC129934529, RANBP2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 442 261 88 0 0 792
Fulgent Genetics, Fulgent Genetics 1 0 4 9 0 0 0 14
Baylor Genetics 0 1 3 0 0 0 0 4
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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 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, Suma Genomics 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1

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