ClinVar Miner

Variants in gene ADAR

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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 total
33 18 192 77 32 325

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 7 2 145 59 10 221
Symmetrical dyschromatosis of extremities 9 3 34 5 28 76
not provided 9 5 18 26 0 57
Aicardi-Goutieres syndrome 6 12 10 6 0 0 20
not specified 0 0 0 2 8 10
Inborn genetic diseases 4 0 0 0 0 4
ADAR-Related Disorders 1 0 0 0 0 1
Aicardi Goutieres syndrome 0 1 0 1 0 1
Aplasia cutis congenita (disease); Small nail; Hypermelanotic macule; Hypoplastic toenails; Pterygium of nails; Hyperpigmented/hypopigmented macules; Punctate palmoplantar hyperkeratosis; Aplasia/Hypoplasia of the nails; Aplastic/hypoplastic toenail; Mild global developmental delay 0 0 1 0 0 1
Delayed speech and language development; Specific learning disability; Anxiety; Irregular hyperpigmentation; Chronic constipation; Combined T and B cell immunodeficiency 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 1 143 71 10 231
Illumina Clinical Services Laboratory,Illumina 1 0 33 5 28 66
OMIM 16 0 0 0 0 16
GeneDx 4 4 6 1 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 9 0 0 12
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 2 1 5 11
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 8
Baylor Genetics 2 0 4 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 0 5 5
Ambry Genetics 4 0 0 0 0 4
Mendelics 2 2 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 3
GeneReviews 2 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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