ClinVar Miner

Variants in gene PSTPIP1

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
6 1 148 100 78 3 291

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 3 0 132 58 59 3 228
not specified 0 0 10 34 21 0 64
not provided 2 1 18 22 15 0 58
Behcet disease 3 0 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 0 109 42 28 0 181
GeneDx 2 1 15 42 31 0 91
Illumina Clinical Services Laboratory,Illumina 0 0 17 7 45 0 69
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 19 18 24 0 61
PreventionGenetics, PreventionGenetics 0 0 0 5 3 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 5 0 0 0 6
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 3 3
Department of Immunology,Hospital Universitario Virgen del Rocio 3 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 3
OMIM 2 0 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1

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