ClinVar Miner

Variants studied for ADAR-related type 1 interferonopathy

Included ClinVar conditions (3):
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
57 23 710 452 59 3 1264

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 47 19 657 405 52 3 1151
ADAR, LOC126805874 9 4 41 37 4 0 87
ADAR, LOC129931512 0 0 8 10 2 0 20
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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 39 4 637 445 23 0 1148
Illumina Laboratory Services, Illumina 0 0 77 7 47 0 131
Genome-Nilou Lab 2 3 43 13 15 0 76
OMIM 16 0 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 1 0 6 4 1 0 12
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 0 8
Baylor Genetics 3 0 4 0 0 0 6
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 5
Mendelics 2 2 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
3billion 1 1 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1

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