ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
36 27 368 247 44 1 692

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 35 26 366 247 44 1 688
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: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 5 318 240 42 0 630
Illumina Laboratory Services, Illumina 0 0 55 8 5 0 68
Baylor Genetics 2 17 0 0 0 0 19
Fulgent Genetics, Fulgent Genetics 0 1 9 3 0 0 13
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
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
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 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

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