ClinVar Miner

Variants in gene ATR

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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 not provided total
76 31 1683 1300 139 4 3092

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 2 0 1128 813 0 0 1943
not provided 71 26 752 704 135 0 1652
Seckel syndrome 1 6 6 229 143 45 3 421
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 1 0 165 147 40 0 347
not specified 0 0 24 58 25 0 100
ATR-related condition 0 0 9 30 6 0 45
Hereditary cancer-predisposing syndrome 0 0 4 25 1 0 30
Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 0 7 4 0 0 11
Seckel syndrome 0 0 10 0 0 0 10
Microcephaly 0 0 3 0 0 0 3
ATR-X-related syndrome 0 0 1 0 0 0 1
Endometrium 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
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 2 0 1128 813 0 0 1943
Invitae 67 15 723 602 65 0 1472
Genome-Nilou Lab 0 1 164 138 39 0 342
GeneDx 0 2 31 109 94 0 236
Illumina Laboratory Services, Illumina 0 0 87 8 27 0 122
Genetic Services Laboratory, University of Chicago 1 3 30 33 16 0 83
CeGaT Center for Human Genetics Tuebingen 4 5 13 36 6 0 64
PreventionGenetics, part of Exact Sciences 0 0 9 30 6 0 45
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 11 19 0 30
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 4 7 11 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 10 3 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 11 0 12
Fulgent Genetics, Fulgent Genetics 0 0 7 4 0 0 11
Eurofins Ntd Llc (ga) 0 0 3 0 7 0 10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 9 0 0 10
Revvity Omics, Revvity 0 1 7 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 4 0 7
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
Mendelics 0 0 4 0 1 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 4 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 4
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
Stewart Lab, University of Birmingham 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 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
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Pediatric Oncology, Johns Hopkins University 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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