ClinVar Miner

Variants studied for Familial hemophagocytic lymphohistiocytosis 3

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
116 43 540 766 73 5 1468

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
UNC13D 103 38 496 682 65 5 1319
LOC112533672, UNC13D 13 5 40 84 7 0 144
LOC130061690, UNC13D 0 0 4 0 1 0 5

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 106 31 457 753 64 0 1411
Illumina Laboratory Services, Illumina 3 1 97 10 22 0 133
Revvity Omics, Revvity 3 1 13 0 0 0 17
Fulgent Genetics, Fulgent Genetics 5 2 7 3 0 0 17
Baylor Genetics 0 0 9 0 0 0 9
OMIM 8 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
3billion 3 0 3 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Mendelics 3 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Clinical laboratory, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 0 1 0 0 1
DASA 1 0 0 0 0 0 1
Growth and Development Research Center, Tehran University of Medical Sciences 0 1 0 0 0 0 1

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