ClinVar Miner

Variants studied for autoinflammatory syndrome with immune deficiency

Included ClinVar conditions (36):
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 association risk factor not provided total
172 46 2397 874 628 3 1 535 4079

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
MEFV 31 14 342 116 41 0 0 169 511
NLRP12 10 2 304 92 72 0 0 1 441
NOD2 11 1 245 106 88 3 1 80 437
LPIN2 15 5 262 78 49 0 0 8 379
PLCG2 3 0 220 102 53 0 0 0 375
NLRP3 17 6 152 71 57 0 0 98 349
SH3BP2 10 1 169 64 119 0 0 0 340
PSTPIP1 3 0 132 58 59 0 0 3 228
MVK 26 8 94 35 13 0 0 90 224
TNFRSF1A 14 6 101 34 14 0 0 85 212
NLRC4 2 0 137 44 16 0 0 0 198
IL1RN 5 1 63 18 19 0 0 0 101
PSMB8 7 1 67 13 12 0 0 0 96
ADAM17, IAH1 3 0 59 14 8 0 0 0 84
ADAM17 1 1 41 22 4 0 0 0 69
MMAB, MVK 0 0 1 2 4 0 0 1 8
PSMB4 4 0 1 0 0 0 0 0 5
POMP 3 0 0 0 0 0 0 0 3
SCNN1A, TNFRSF1A 0 0 0 3 0 0 0 0 3
EGFR 1 0 1 0 0 0 0 0 2
NLRP3, OR2B11 0 0 2 0 0 0 0 0 2
PSMA3 2 0 0 0 0 0 0 0 2
PSMG2 2 0 0 0 0 0 0 0 2
DPY30, MEMO1, NLRC4, SLC30A6, SPAST, SRD5A2, XDH 0 0 1 0 0 0 0 0 1
FAM193A, HAUS3, MXD4, NAT8L, POLN, RNF4, SH3BP2, TNIP2, ZFYVE28 0 0 1 0 0 0 0 0 1
MET 0 0 0 1 0 0 0 0 1
MYADM, NLRP12, PRKCG 0 0 1 0 0 0 0 0 1
NFKBIA 0 0 1 0 0 0 0 0 1
PSMB10 1 0 0 0 0 0 0 0 1
PSMB9 1 0 0 0 0 0 0 0 1
RIT1 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 77 25 1766 704 276 3 1 0 2852
Illumina Clinical Services Laboratory,Illumina 9 0 523 138 422 0 0 0 1092
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 514 514
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 2 36 46 50 0 0 0 135
Mendelics 1 2 101 1 5 0 0 0 110
OMIM 99 0 4 0 0 0 0 0 103
Natera, Inc. 7 0 49 13 16 0 0 0 85
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 0 46 0 0 0 0 0 50
Integrated Genetics/Laboratory Corporation of America 10 3 2 1 10 0 0 0 26
Baylor Genetics 7 0 17 0 0 0 0 0 24
GeneReviews 19 0 1 0 2 0 0 0 22
Fulgent Genetics,Fulgent Genetics 6 2 8 2 0 0 0 0 18
Medical Biology Lab, Gaziantep University 0 0 0 0 0 0 0 13 13
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 11 1 0 0 0 0 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 4 5 0 0 0 10
Counsyl 2 3 3 1 1 0 0 0 10
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 8 1 1 0 0 0 0 0 10
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 4 2 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 0 2 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 0 6 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 1 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 1 1 0 0 0 0 0 5
Myriad Women's Health, Inc. 4 1 0 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 0 0 4
Medical Genetics of Dicle University 0 0 0 0 0 0 0 4 4
Undiagnosed Diseases Network,NIH 1 0 3 0 0 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 2 0 0 0 0 0 4
New York Genome Center 1 0 3 0 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 0 0 3
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 2 0 0 0 0 3
Atomic Energy Commission of Syria (AECS) 0 0 0 3 0 0 0 0 3
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 0 0 3
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 2 0 0 0 0 0 3
Nilou-Genome Lab 0 0 3 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 1 0 0 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 0 0 0 0 0 0 0 2
Geng Laboratory,The Second Hospital Affiliated to Xi’an Jiaotong University 0 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences 0 0 1 0 0 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 0 1
Experimental and Health Sciences Department,Universitat Pompeu Fabra 0 0 1 0 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 0 1 0 0 0 0 0 0 1

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