ClinVar Miner

Variants studied for Chédiak-Higashi syndrome

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
121 85 1475 1502 96 45 3179

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
LYST 116 80 1445 1468 94 44 3107
LOC126806063, LYST 5 4 23 33 1 1 62
LOC129932856, LYST 0 0 6 1 1 0 8
B3GALNT2, GNG4, LYST 0 0 1 0 0 0 1
B3GALNT2, GNG4, LYST, TBCE 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 115 22 1288 1476 87 0 2988
Illumina Laboratory Services, Illumina 0 1 204 18 28 0 251
Revvity Omics, Revvity 8 2 130 0 0 0 140
Baylor Genetics 6 50 9 0 0 0 65
Fulgent Genetics, Fulgent Genetics 0 0 39 7 0 0 46
GeneReviews 0 0 0 0 0 41 41
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 17 4 0 0 21
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 5 7 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 7 1 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 6 1 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Mendelics 0 0 1 1 1 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 1 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 1 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Fan Lab, Zhengzhou University 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
3billion 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 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 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1

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