ClinVar Miner

Variants studied for Familial hemophagocytic lymphohistiocytosis 5

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
46 54 365 534 48 5 1009

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STXBP2 45 54 362 534 48 4 1004
PCP2, PET100, STXBP2 1 0 1 0 0 0 2
CAMSAP3, CCL25, CD209, CD320, CERS4, CLEC4G, CLEC4M, CTXN1, ELAVL1, EVI5L, FBN3, FCER2, LRRC8E, MAP2K7, MCEMP1, MCOLN1, PCP2, PET100, PNPLA6, RETN, SNAPC2, STXBP2, TGFBR3L, TIMM44, TRAPPC5, XAB2 0 0 1 0 0 0 1
LOC130063381, STXBP2 0 0 1 0 0 0 1
STX11 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 39 24 331 526 45 0 965
Illumina Laboratory Services, Illumina 0 0 36 6 6 0 48
Baylor Genetics 13 28 5 0 0 0 46
Fulgent Genetics, Fulgent Genetics 2 0 2 2 1 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 3 0 3 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Mendelics 2 1 0 0 1 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
3billion 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
MGZ Medical Genetics Center 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 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.