ClinVar Miner

Variants in gene LTBP4

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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
22 15 413 351 103 7 855

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 13 8 313 321 96 0 724
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 11 6 65 4 26 5 114
not specified 0 0 19 35 29 1 81
Inborn genetic diseases 0 0 60 1 0 0 61
LTBP4-related condition 0 1 4 24 8 0 37
Cutis Laxa Syndrome 0 0 0 0 0 1 1
Cutis laxa 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 6 238 253 46 0 555
GeneDx 2 3 95 128 79 0 306
Illumina Laboratory Services, Illumina 0 0 52 3 22 0 77
Ambry Genetics 0 0 60 1 0 0 61
CeGaT Center for Human Genetics Tuebingen 0 0 29 15 2 0 46
PreventionGenetics, part of Exact Sciences 0 1 4 24 8 0 37
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 7 5 21 1 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 9 2 1 0 13
Genome-Nilou Lab 0 0 0 0 7 0 7
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 1 1 4 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 5 1 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 6 0 6
Baylor Genetics 0 1 4 0 0 0 5
Eurofins Ntd Llc (ga) 0 0 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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