ClinVar Miner

Variants studied for Chediak-Higashi syndrome

Included ClinVar conditions (1):
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 5 282 40 18 370

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 5 282 40 18 370

Submitter and significance breakdown #

Total submitters: 14
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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 5 0 0 5
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
Genetic Services Laboratory, University of Chicago 1 0 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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