ClinVar Miner

Variants studied for ADAR-related type 1 interferonopathy

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
73 35 867 577 59 4 1570

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADAR 63 29 805 520 52 4 1439
ADAR, LOC126805874 9 6 49 43 4 0 100
ADAR, LOC129931512 0 0 9 14 2 0 25
ADAR, LOC129931513 0 0 3 0 1 0 4
ADAR, AQP10, ATP8B2, C1orf43, CFAP141, CHRNB2, CREB3L4, CRTC2, DENND4B, GATAD2B, HAX1, IL6R, JTB, NUP210L, RAB13, RPS27, SHE, SLC39A1, TDRD10, TPM3, UBAP2L, UBE2Q1 0 0 1 0 0 0 1
ADAR, CHRNB2, IL6R, SHE, TDRD10, UBE2Q1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 51 7 799 573 24 0 1454
Illumina Laboratory Services, Illumina 0 0 69 4 46 0 119
Genome-Nilou Lab 2 3 43 13 15 0 76
OMIM 16 0 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 1 1 7 4 1 0 14
Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University 3 6 0 0 0 0 9
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 0 8
Baylor Genetics 3 0 4 0 0 0 6
3billion 3 1 1 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 5
Mendelics 2 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
GLIA-CTN Genomics Core 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

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