ClinVar Miner

Variants studied for Familial hemophagocytic lymphohistiocytosis 2

Coded as:
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 not provided total
88 28 255 234 32 4 602

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRF1 87 28 254 234 32 4 600
EIF4EBP2, NODAL, PALD1, PRF1 0 0 1 0 0 0 1
LIFR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 14 210 229 27 0 555
Illumina Laboratory Services, Illumina 2 1 51 5 13 0 72
OMIM 12 0 1 0 0 0 13
Mendelics 3 2 2 2 1 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 1 3 0 0 0 8
Baylor Genetics 3 0 2 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 2 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 0 0 1

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