ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome 5

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
20 2 85 13 23 140

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HPS5 20 2 75 12 19 125
HPS5, LOC126861152 0 0 8 0 4 12
HPS5, LOC130005404 0 0 2 1 0 3

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 70 11 21 102
Fulgent Genetics, Fulgent Genetics 1 2 10 1 1 15
Laboratoire de Génétique Moléculaire, CHU Bordeaux 11 0 0 0 0 11
OMIM 7 0 0 0 0 7
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 4 0 0 5
Revvity Omics, Revvity 1 0 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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