ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome 2

Coded as:
Minimum submission review status: Collection method:
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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
40 32 385 297 44 1 765

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 39 31 383 297 44 1 761
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 28 6 335 289 42 0 700
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
OMIM 8 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 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
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 3 0 4
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 3 0 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 2 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 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
3billion 0 0 0 1 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
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

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