ClinVar Miner

Variants studied for Chédiak-Higashi syndrome

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
128 101 1476 1502 96 45 3200

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LYST 121 97 1446 1468 94 44 3127
LOC126806063, LYST 5 4 23 33 1 1 62
LOC129932856, LYST 0 0 6 1 1 0 8
ACTN2, ARID4B, B3GALNT2, EDARADD, ERO1B, GGPS1, GNG4, GPR137B, HEATR1, LGALS8, LYST, NID1, RBM34, TBCE, TOMM20 1 0 0 0 0 0 1
B3GALNT2, GNG4, LYST 0 0 1 0 0 0 1
B3GALNT2, GNG4, LYST, TBCE 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 120 22 1288 1476 87 0 2993
Illumina Laboratory Services, Illumina 0 1 204 18 28 0 251
Revvity Omics, Revvity 8 2 130 0 0 0 140
Baylor Genetics 7 65 9 0 0 0 81
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
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
Mendelics 0 0 1 1 1 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 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
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 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
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Laboratoire de Génome Humain et Maladies Multifactorielles, Monastir Universite 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 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.