ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome 6

Included ClinVar conditions (2):
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
64 26 808 576 28 3 1480

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
ADAR 54 22 750 519 23 3 1354
ADAR, LOC126805874 9 4 48 43 4 0 100
ADAR, LOC129931512 0 0 9 14 1 0 24
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: 36
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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
Genome-Nilou Lab 2 3 43 13 15 0 76
Fulgent Genetics, Fulgent Genetics 1 1 7 4 1 0 14
OMIM 10 0 0 0 0 0 10
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 0 8
Baylor Genetics 3 0 3 0 0 0 6
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 5
3billion 3 0 1 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 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 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
GeneReviews 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 1 0 0 0 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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
MVZ Medizinische Genetik Mainz 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
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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