ClinVar Miner

Variants studied for pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Included ClinVar conditions (2):
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
3 0 277 233 71 4 553

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
PSTPIP1 3 273 233 68 4 546
LOC130057651, PSTPIP1 0 2 0 3 0 5
ARID3B, C15orf39, CCDC33, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, ETFA, FAM219B, FBXO22, GOLGA6A, GOLGA6C, GOLGA6D, IMP3, ISL2, ISLR, ISLR2, LMAN1L, LOXL1, MAN2C1, MPI, NEIL1, NRG4, PML, PPCDC, PSTPIP1, PTPN9, RCN2, RPP25, SCAMP2, SCAMP5, SCAPER, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TMEM266, UBE2Q2, UBL7, ULK3 0 1 0 0 0 1
LOC130057652, LOC130057653, PSTPIP1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 253 214 45 0 515
Illumina Laboratory Services, Illumina 0 17 7 45 0 69
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 17 22 25 0 64
Fulgent Genetics, Fulgent Genetics 0 0 4 0 0 4
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 3 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 0 0 0 3
OMIM 2 0 0 0 0 2
Revvity Omics, Revvity 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 2 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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