ClinVar Miner

Variants in gene STXBP2

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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 total
15 1 160 91 37 275

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hemophagocytic lymphohistiocytosis, familial, 5 14 1 153 66 23 244
not provided 3 0 10 21 1 35
not specified 0 0 0 14 24 35
Familial hemophagocytic lymphohistiocytosis 1 0 4 1 3 9
Abnormal bleeding; Thrombocytopenia 0 0 3 0 0 3

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 8 1 123 72 22 226
Illumina Clinical Services Laboratory,Illumina 1 0 40 7 9 57
PreventionGenetics, PreventionGenetics 0 0 0 12 22 34
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 10 2 4 16
OMIM 7 0 0 0 0 7
Baylor Genetics 1 0 4 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 2 3 5
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 3
Mendelics 2 0 0 0 1 3
Birmingham Platelet Group; University of Birmingham 0 0 3 0 0 3
GeneDx 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 1

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