ClinVar Miner

Variants studied for Familial hemophagocytic lymphohistiocytosis 5

Coded as:
Minimum submission review status: Collection method:
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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
45 48 365 534 48 5 1002

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STXBP2 45 48 362 534 48 4 998
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
PCP2, PET100, STXBP2 0 0 1 0 0 0 1
STX11 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 38 24 331 526 45 0 964
Illumina Laboratory Services, Illumina 0 0 36 6 6 0 48
Baylor Genetics 13 22 5 0 0 0 40
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
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
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
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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