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
46 11 311 185 72 549

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Chédiak-Higashi syndrome 45 5 282 40 18 370
not provided 2 5 33 136 54 219
not specified 0 0 12 21 33 64
Chediak-Higashi syndrome, childhood type 7 0 0 0 0 7
Chediak-Higashi syndrome, adult type 3 0 0 0 0 3
Recurrent infections 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 0 150 139 43 338
Illumina Clinical Services Laboratory,Illumina 0 1 137 18 5 161
GeneDx 2 3 13 3 21 42
PreventionGenetics,PreventionGenetics 0 0 0 9 32 41
GeneReviews 41 0 0 0 0 41
Genetic Services Laboratory, University of Chicago 1 0 12 8 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 11 6 0 17
OMIM 10 0 0 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
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 5
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
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

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