ClinVar Miner

Variants in gene CRTAP

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
18 4 205 59 45 1 320

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Osteogenesis imperfecta type 7 18 3 191 44 31 1 280
not provided 2 1 11 10 13 0 36
not specified 0 0 1 10 7 0 18
Osteogenesis Imperfecta, Recessive 0 0 9 0 1 0 10

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 140 14 30 0 185
Invitae 9 0 62 34 6 0 111
GeneDx 1 0 3 12 17 0 33
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 7 1 4 0 12
OMIM 9 0 0 0 0 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 2 4 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 1 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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