ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome 3

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 not provided total
26 110 68 12 27 1 235

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HPS3 17 86 43 6 16 1 165
CP, HPS3 9 24 25 6 11 0 70

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 60 10 19 0 89
Baylor Genetics 18 70 0 0 0 0 88
Myriad Genetics, Inc. 1 34 0 0 0 0 35
Genome-Nilou Lab 0 0 1 1 13 0 15
Revvity Omics, Revvity 2 6 4 0 0 0 12
Fulgent Genetics, Fulgent Genetics 5 2 3 1 0 0 11
OMIM 7 0 0 0 0 0 7
Counsyl 0 1 0 1 1 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 2 0 0 0 3
GeneReviews 1 0 0 0 0 1 2
3billion 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1

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