ClinVar Miner

Variants in gene combination CP, HPS3

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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 total
35 45 108 169 33 348

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 32 7 53 161 26 276
Hermansky-Pudlak syndrome 3 12 32 26 6 11 81
Hermansky-Pudlak syndrome 3 6 22 7 6 44
Deficiency of ferroxidase 0 1 13 12 6 30
Inborn genetic diseases 0 0 17 1 0 18
not specified 0 0 4 3 5 11
HPS3-related disorder 0 0 1 2 0 3
Neurodegeneration with brain iron accumulation 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 31 8 50 151 10 250
Illumina Laboratory Services, Illumina 0 0 38 12 11 56
GeneDx 1 0 2 8 19 30
Baylor Genetics 7 20 0 0 0 27
Natera, Inc. 2 3 7 4 5 21
Breakthrough Genomics, Breakthrough Genomics 0 0 2 11 7 20
Ambry Genetics 0 0 17 1 0 18
Fulgent Genetics, Fulgent Genetics 3 7 2 1 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 4 2 0 9
Myriad Genetics, Inc. 0 6 0 0 0 6
PreventionGenetics, part of Exact Sciences 0 0 1 2 2 5
OMIM 3 0 0 0 0 3
Revvity Omics, Revvity 0 2 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 1 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
3billion 1 0 0 0 0 1

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