ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome 6

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
13 8 40 4 8 71

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HPS6 12 8 40 4 8 70
​intergenic 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 39 4 8 51
OMIM 10 0 0 0 0 10
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
GeneReviews 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital, New South Wales Health Pathology 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1

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