ClinVar Miner

Variants in gene ATR

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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
22 11 319 192 74 1 565

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 15 7 227 115 65 0 422
Seckel syndrome 1 6 4 100 8 28 0 144
not specified 0 0 14 59 23 0 87
Hereditary cancer-predisposing syndrome 0 0 4 25 1 0 30
none provided 0 0 0 3 10 0 13
Seckel syndrome 0 0 10 0 0 0 10
Microcephaly 0 0 3 0 0 0 3
Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome, familial 0 0 2 0 0 0 2
ATR-X-related syndrome 0 0 1 0 0 0 1
Cutaneous telangiectasia and cancer syndrome, familial 1 0 0 0 0 0 1
Endometrial neoplasm 0 0 0 0 0 1 1
Familial cancer of breast 0 0 1 0 0 0 1
Malignant tumor of breast 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
Invitae 13 4 210 112 27 0 366
Illumina Clinical Services Laboratory,Illumina 0 0 94 8 27 0 129
GeneDx 0 1 8 34 33 0 76
Genetic Services Laboratory, University of Chicago 1 1 23 29 14 0 68
University of Washington Department of Laboratory Medicine, University of Washington 0 0 3 25 0 0 28
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 3 10 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 10 0 0 0 14
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 11 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 7 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 3 0 6
OMIM 5 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 0 0 4
Mendelics 0 0 2 0 1 0 3
Center of Medical Genetics and Primary Health Care 0 0 2 1 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Stewart Lab,University of Birmingham 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 1 1
Pediatric Oncology, Johns Hopkins University 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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