ClinVar Miner

Variants in gene BLTP1

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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
21 26 389 76 122 616

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 285 11 0 296
not provided 6 4 80 24 118 225
BLTP1-related disorder 0 3 5 56 16 80
Alkuraya-Kucinskas syndrome 14 14 47 1 4 79
Clubfoot; Arthrogryposis multiplex congenita; Severe hydrocephalus 0 2 0 0 0 2
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 0 2 0 0 0 2
Hemivertebrae; Renal agenesis; Right aortic arch 1 0 1 0 0 2
Inborn genetic diseases 0 0 2 0 0 2
Dandy-Walker syndrome; Clubfoot; Micrognathia; Pleural effusion; Hydrocephalus; Flexed deformity 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 284 11 0 295
GeneDx 2 3 59 1 105 170
PreventionGenetics, part of Exact Sciences 0 3 5 56 16 80
CeGaT Center for Human Genetics Tuebingen 0 0 9 18 0 27
Labcorp Genetics (formerly Invitae), Labcorp 2 0 4 3 13 22
Revvity Omics, Revvity 2 4 12 0 0 18
Baylor Genetics 1 0 9 0 0 10
Breakthrough Genomics, Breakthrough Genomics 0 0 3 1 4 8
OMIM 6 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 3 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 1 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 1 0 0 4
Center for Reproductive Medicine, Peking University Third Hospital 1 2 1 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 2
Cirak Lab, University Hospital Cologne 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 1
Institute of Bioinformatics 0 1 0 0 0 1
Medical Genetics, Spectrum Health 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 1

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