ClinVar Miner

Variants in gene PSMB8

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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 not provided total
19 5 130 91 24 1 250

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Proteosome-associated autoinflammatory syndrome 14 2 63 77 11 0 167
Proteasome-associated autoinflammatory syndrome 1 7 2 46 5 9 0 66
not provided 1 0 14 6 15 1 35
Autoinflammatory syndrome 0 1 20 2 7 0 30
Inborn genetic diseases 0 0 15 5 0 0 20
not specified 0 0 1 2 5 0 8
PSMB8-related disorder 1 0 0 6 0 0 7
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 2 90 77 11 0 195
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 20 2 7 0 30
Illumina Laboratory Services, Illumina 0 0 13 3 9 0 25
GeneDx 1 0 6 0 14 0 21
Ambry Genetics 0 0 15 5 0 0 20
PreventionGenetics, part of Exact Sciences 1 0 0 6 0 0 7
OMIM 6 0 0 0 0 0 6
CeGaT Center for Human Genetics Tuebingen 0 0 1 4 1 0 6
Breakthrough Genomics, Breakthrough Genomics 0 0 2 3 0 0 5
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 4 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 2 0 0 3
Revvity Omics, Revvity 0 0 2 1 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Geng Laboratory, The Second Hospital Affiliated to Xi’an Jiaotong University 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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