ClinVar Miner

Variants in gene LYST

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
55 14 640 241 79 953

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Chédiak-Higashi syndrome 54 7 615 176 55 852
not provided 3 5 40 74 24 144
not specified 0 0 12 21 33 64
Chediak-Higashi syndrome, childhood type 7 0 0 0 0 7
Abnormal bleeding; Thrombocytopenia 0 1 2 0 0 3
Chediak-Higashi syndrome, adult type 3 0 0 0 0 3
Seizures 0 0 3 0 0 3
Recurrent infections 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 2 451 200 43 710
Illumina Clinical Services Laboratory,Illumina 0 1 204 18 28 251
GeneDx 2 3 13 3 21 42
PreventionGenetics, PreventionGenetics 0 0 0 9 32 41
GeneReviews 41 0 0 0 0 41
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 11 10 0 22
Genetic Services Laboratory, University of Chicago 1 0 12 8 0 21
Baylor Genetics 3 0 9 0 0 12
OMIM 10 0 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 10
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 7 1 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 7 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 6 1 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 5 2 0 8
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 7 1 0 8
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
Blueprint Genetics 0 0 4 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 2 4
Mendelics 0 0 1 1 1 3
Birmingham Platelet Group; University of Birmingham 0 1 2 0 0 3
New York Genome Center 0 0 3 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Fan Lab,Zhengzhou University 0 2 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 1

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