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
22 7 174 47 29 250

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dyskeratosis congenita 11 2 86 23 21 143
Dyskeratosis Congenita, Recessive 0 0 75 13 7 95
not specified 0 0 12 10 11 30
Cerebroretinal microangiopathy with calcifications and cysts 1 13 3 5 2 0 23
not provided 3 2 9 1 0 15
Cerebroretinal microangiopathy with calcifications and cysts 2 1 0 0 0 3
Idiopathic fibrosing alveolitis, chronic form 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 2 84 23 21 141
Illumina Clinical Services Laboratory,Illumina 1 1 77 13 7 99
Genetic Services Laboratory, University of Chicago 1 1 11 10 1 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
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
Mayo Clinic Genetic Testing 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 2 0 2
Blueprint Genetics 0 0 1 0 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

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