ClinVar Miner

Variants in gene CRTAP

Minimum submission review status: Collection method:
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Gene type:
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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
13 3 111 38 25 181

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Osteogenesis Imperfecta, Recessive 0 0 81 15 10 106
Osteogenesis imperfecta type 7 13 3 27 13 8 62
not provided 1 0 8 3 11 23
not specified 0 0 2 10 7 18

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 82 15 10 108
Invitae 4 0 25 13 4 46
GeneDx 1 0 3 12 17 33
OMIM 9 0 0 0 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 2 4 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
PreventionGenetics 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1

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