ClinVar Miner

Variants in gene CRTAP

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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 not provided total
40 14 272 217 51 1 574

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Osteogenesis imperfecta type 7 39 10 249 203 34 1 519
not provided 3 1 15 17 19 0 55
Osteogenesis imperfecta 2 2 9 2 2 0 17
Inborn genetic diseases 0 0 14 0 0 0 14
not specified 0 0 1 6 7 0 14
CRTAP-related condition 1 1 2 8 0 0 12
Osteogenesis Imperfecta, Recessive 0 0 9 0 1 0 10

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 3 128 188 11 0 361
Illumina Laboratory Services, Illumina 0 1 134 14 30 0 179
GeneDx 3 0 8 20 25 0 56
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 0 9 2 2 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 6 3 4 0 14
Ambry Genetics 0 0 14 0 0 0 14
PreventionGenetics, part of Exact Sciences 1 1 2 8 2 0 14
OMIM 8 0 0 0 0 0 8
Eurofins Ntd Llc (ga) 0 0 1 2 4 0 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 5 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 2 1 0 0 3
3billion 1 1 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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