ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
47 34 403 347 44 2 841

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AP3B1 46 33 401 347 44 2 837
AP3D1 0 0 2 0 0 0 2
AGGF1, AP3B1, ARSB, CRHBP, F2RL1, LHFPL2, OTP, PDE8B, S100Z, SCAMP1, TBCA, WDR41, ZBED3 1 0 0 0 0 0 1
HPS3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 32 7 353 339 42 0 773
Illumina Laboratory Services, Illumina 0 0 55 8 5 0 68
Baylor Genetics 2 18 1 0 0 0 21
Fulgent Genetics, Fulgent Genetics 0 4 11 3 0 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 0 0 8
OMIM 8 0 0 0 0 0 8
Blood Cell Research, Sanquin 5 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 1 0 0 4
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 3 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 3 0 4
3billion 2 0 0 1 0 0 3
Revvity Omics, Revvity 0 1 2 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Department of Pulmonology, Children’s Hospital, Zhejiang University School of Medicine 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1

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