ClinVar Miner

Variants in gene ATR

Minimum submission review status: Collection method:
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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
6 4 95 95 52 1 222

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 15 58 22 0 86
Seckel syndrome 0 0 58 14 5 0 77
not provided 0 1 14 3 41 0 58
Hereditary cancer-predisposing syndrome 0 0 3 25 1 0 29
Seckel syndrome 1 5 3 15 0 0 0 23
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

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 59 14 5 0 78
GeneDx 0 1 8 34 33 0 76
Genetic Services Laboratory, University of Chicago 1 1 25 28 13 0 68
University of Washington Department of Laboratory Medicine,University of Washington 0 0 3 25 0 0 28
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Stewart Lab,University of Birmingham 0 2 0 0 0 0 2
Division of Genomic Diagnostics,The 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
Vantari Genetics 0 0 0 0 1 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 1 1

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