ClinVar Miner

Variants studied for autosomal dominant familial periodic fever

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
19 13 206 207 20 86 484

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TNFRSF1A 19 13 199 195 19 86 465
LOC130007232, TNFRSF1A 0 0 4 9 1 0 13
LOC130007233, TNFRSF1A 0 0 3 0 0 0 3
LOC130007233, SCNN1A, TNFRSF1A 0 0 0 2 0 0 2
SCNN1A, TNFRSF1A 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 8 170 198 18 0 401
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 85 85
Illumina Laboratory Services, Illumina 1 0 35 7 4 0 47
OMIM 12 0 0 0 0 0 12
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 3 4 0 0 7
Mendelics 1 0 1 0 2 0 4
MGZ Medical Genetics Center 0 3 0 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1

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