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
45 9 238 76 44 361

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Chédiak-Higashi syndrome 44 3 216 60 32 319
not specified 0 0 12 21 33 64
not provided 2 5 22 4 2 34
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 137 18 5 161
Invitae 4 0 80 34 27 145
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
GeneDx 2 3 13 3 0 21
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 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 2 0 2
Fan Lab,Zhengzhou University 0 2 0 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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