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 total
45 4 280 40 18 367

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LYST 45 4 280 40 18 367

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 0 150 10 11 177
Illumina Clinical Services Laboratory,Illumina 0 1 137 18 5 161
GeneReviews 41 0 0 0 0 41
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 7 1 9
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 6 1 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 4 0 0 4
Mendelics 0 0 1 1 1 3
Fan Lab,Zhengzhou University 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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