ClinVar Miner

Variants in gene CTC1

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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 total
36 10 383 125 51 565

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dyskeratosis congenita 23 5 357 102 50 515
not provided 7 3 13 26 0 49
Cerebroretinal microangiopathy with calcifications and cysts 1 13 3 17 3 0 36
not specified 0 0 12 7 14 30
Dyskeratosis Congenita, Recessive 0 0 6 0 0 6
Cerebroretinal microangiopathy with calcifications and cysts 3 0 0 0 0 3
Idiopathic Pulmonary Fibrosis 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 5 247 95 27 397
Illumina Clinical Services Laboratory,Illumina 1 1 135 22 36 195
Genetic Services Laboratory, University of Chicago 2 0 11 7 4 24
OMIM 13 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 10 11
GeneDx 2 2 2 0 0 6
Fulgent Genetics,Fulgent Genetics 0 1 5 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 2 0 5
Baylor Genetics 0 0 3 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 3 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 2
Mendelics 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Godley laboratory, The University of Chicago 0 0 2 0 0 2
Blueprint Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 1
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 1

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