ClinVar Miner

Variants in gene LYST

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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 likely risk allele not provided total
156 136 1686 1721 207 1 51 3694

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Chédiak-Higashi syndrome 145 123 1505 1616 94 0 45 3377
not provided 6 7 180 135 125 0 6 430
Inborn genetic diseases 1 0 272 31 0 0 0 304
not specified 0 0 70 64 66 0 0 183
LYST-related disorder 1 3 28 63 1 0 0 96
Autoinflammatory syndrome 0 2 48 22 12 0 0 84
CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE 7 0 0 0 0 0 0 7
Meniere disease 0 0 6 0 0 0 0 6
Abnormal bleeding; Thrombocytopenia 0 1 2 0 0 0 0 3
CHEDIAK-HIGASHI SYNDROME, ADULT TYPE 3 0 0 0 0 0 0 3
Spastic ataxia 0 1 2 0 0 0 0 3
Adrenocortical carcinoma, hereditary 0 1 0 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 0 1
Optic neuropathy 0 0 1 0 0 0 0 1
Recurrent infections 0 1 0 0 0 0 0 1
Susceptibility to severe COVID-19 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 135 25 1326 1602 86 0 0 3174
Ambry Genetics 1 0 272 31 0 0 0 304
Illumina Laboratory Services, Illumina 0 1 194 17 27 0 0 239
GeneDx 3 4 72 35 118 0 0 232
PreventionGenetics, part of Exact Sciences 1 3 28 71 33 0 0 136
Revvity Omics, Revvity 8 2 124 0 0 0 0 134
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 57 44 2 0 0 106
Fulgent Genetics, Fulgent Genetics 3 30 50 7 0 0 0 90
Breakthrough Genomics, Breakthrough Genomics 0 0 12 30 47 0 0 89
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 48 22 12 0 0 84
Mayo Clinic Laboratories, Mayo Clinic 0 0 82 0 0 0 0 82
Baylor Genetics 7 63 9 0 0 0 0 79
CeGaT Center for Human Genetics Tuebingen 3 1 22 46 5 0 0 77
GeneReviews 0 0 0 0 0 0 40 40
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 30 3 0 0 36
Genetic Services Laboratory, University of Chicago 1 0 14 12 1 0 0 28
Clinical Genetics, Academic Medical Center 0 0 1 2 23 0 0 26
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 18 6 0 0 25
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 17 4 0 0 0 21
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 19 1 0 0 0 20
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 18 0 0 18
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 11 4 0 0 16
OMIM 10 0 0 0 0 0 0 10
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 3 7 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 7 0 0 8
Eurofins Ntd Llc (ga) 0 1 5 2 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 1 1 1 1 0 6
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 6 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 4 1 0 0 0 0 5
Blueprint Genetics 0 0 4 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 2 0 0 4
New York Genome Center 0 0 4 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 0 4
Mendelics 0 0 1 1 1 0 0 3
Birmingham Platelet Group; University of Birmingham 0 1 2 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 1 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Fan Lab, Zhengzhou University 0 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 0 2
3billion 1 0 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 0 1
Laboratoire de Génome Humain et Maladies Multifactorielles, Monastir Universite 1 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 1

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