ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome 1

Included ClinVar conditions (2):
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 not provided total
68 134 324 78 80 5 648

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HPS1 37 95 224 48 46 4 418
HPS3 9 3 26 10 12 0 59
HPS4 2 6 25 5 9 0 46
CP, HPS3 3 6 22 7 6 0 44
AP3B1 0 2 9 6 5 0 22
HPS5 4 5 6 0 0 0 15
HPS6 4 11 1 0 0 0 15
DTNBP1 1 1 5 0 0 0 7
BLOC1S6 0 2 2 0 1 0 5
HPS6, LOC130004578 4 1 0 0 0 0 5
BLOC1S3 1 0 2 1 0 0 4
HPS1, LOC130004494 0 0 1 1 0 0 2
HPS4, LOC130067147 0 0 1 0 1 0 2
BLOC1S5 1 0 0 0 0 0 1
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 1 0 0 0 0 0 1
ETV6 0 1 0 0 0 0 1
HPS1, MIR4685 1 1 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 17 29 132 30 2 0 210
Illumina Laboratory Services, Illumina 0 1 135 22 52 0 210
Natera, Inc. 14 5 72 31 38 0 160
Baylor Genetics 24 50 1 0 0 0 75
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 26 0 0 0 0 47
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 14 7 9 0 0 0 30
NIHR Bioresource Rare Diseases, University of Cambridge 11 15 3 0 0 0 28
Genome-Nilou Lab 1 0 0 0 15 0 16
Revvity Omics, Revvity 4 3 3 0 0 0 10
OMIM 7 0 0 0 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 3 0 2 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 0 0 0 3
Center of Medical Genetics, Central South University 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 0 1
Molecular Genetics, University Hospital Bordeaux 1 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1

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