ClinVar Miner

Variants studied for ataxia - telangiectasia-like disorder

Included ClinVar conditions (4):
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
49 26 457 102 48 1 646

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MRE11 32 20 423 98 34 1 573
APTX 16 2 31 4 14 0 66
SETX 0 1 2 0 0 0 3
PCNA 1 1 1 0 0 0 2
MIR548L, MRE11 0 1 0 0 0 0 1
PNKP 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 14 331 81 18 0 470
Illumina Clinical Services Laboratory,Illumina 1 1 137 10 28 0 177
Counsyl 1 2 6 9 9 0 27
Baylor Genetics 5 0 12 0 0 0 17
Fulgent Genetics,Fulgent Genetics 0 0 17 0 0 0 17
OMIM 16 0 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 3 8 0 13
Mendelics 2 2 0 1 1 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 0 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 1 3 0 0 0 0 4
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 1

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