ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome 1

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
29 4 2 0 4 38

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
HPS1 28 4 2 4 37
DTNBP1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance benign total
GeneReviews 24 0 0 4 28
OMIM 7 0 0 0 7
Center of Medical Genetics,Central South University 2 1 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 1

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