ClinVar Miner

Variants in gene ATR

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 risk factor not provided total
6 6 101 132 72 1 1 268

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 0 3 20 48 64 0 0 130
not specified 0 0 16 58 23 0 0 88
Seckel syndrome 0 0 58 14 5 0 0 77
Hereditary cancer-predisposing syndrome 0 0 4 25 1 0 0 30
Seckel syndrome 1 5 3 17 0 1 0 0 26
Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome, familial 0 0 2 0 0 0 0 2
ATR-X-related syndrome 0 0 1 0 0 0 0 1
Cutaneous telangiectasia and cancer syndrome, familial 1 0 0 0 0 0 0 1
Endometrial neoplasm 0 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 59 14 5 0 0 78
GeneDx 0 1 8 34 33 0 0 76
Invitae 0 0 0 45 26 0 0 71
Genetic Services Laboratory, University of Chicago 1 1 25 28 13 0 0 68
University of Washington Department of Laboratory Medicine, University of Washington 0 0 3 25 0 0 0 28
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 10 0 0 0 0 12
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 11 0 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 7 0 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 3 0 0 6
OMIM 5 0 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 4 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 4 0 0 4
Mendelics 0 0 2 0 1 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 1 0 2
Stewart Lab,University of Birmingham 0 2 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 1 1

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