ClinVar Miner

Variants in gene BMPR1A

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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 not provided total
257 109 1400 973 486 64 2748

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Juvenile polyposis syndrome 193 49 951 708 345 1 1973
Hereditary cancer-predisposing syndrome 115 43 912 532 72 0 1566
not provided 20 20 253 96 102 2 462
not specified 0 0 85 144 26 5 233
Polyposis syndrome, hereditary mixed, 2 4 11 149 0 4 0 168
Generalized juvenile polyposis/juvenile polyposis coli 18 9 52 9 18 3 106
Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome 0 2 33 7 0 0 42
Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension 0 0 0 0 0 39 39
BMPR1A-related disorder 0 0 18 9 0 0 27
Pulmonary arterial hypertension 0 0 9 3 0 1 13
Carcinoma of colon 0 0 1 3 0 0 4
Familial colorectal cancer type X 1 0 0 3 0 0 4
Generalized juvenile polyposis/juvenile polyposis coli; Polyposis syndrome, hereditary mixed, 2 0 0 4 0 0 0 4
Malignant tumor of breast 0 0 2 1 0 0 3
Neoplasm 0 2 1 0 0 0 3
Hepatocellular carcinoma 0 0 0 0 0 2 2
Inherited polyposis and early onset colorectal cancer - germline testing 0 0 2 0 0 0 2
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with congenital heart disease; Pulmonary arterial hypertension associated with another disease 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 1 0 0 0 1
BMPR1A-Related Polyposis Syndrome 1 0 0 0 0 0 1
BMPR1A-related juvenile polyposis syndrome 0 0 0 1 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
Familial meningioma 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Gastrointestinal polyposis 0 0 0 1 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hand oligodactyly; Palpitations; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the phalanges of the hand 0 0 1 0 0 0 1
Juvenile Polyposis 0 1 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian cancer 0 1 0 0 0 0 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Pulmonary arterial hypertension associated with congenital heart disease 0 0 1 0 0 0 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 156 30 913 647 24 0 1768
Ambry Genetics 107 37 730 415 55 0 1344
Color Diagnostics, LLC DBA Color Health 12 6 362 257 18 0 655
Myriad Genetics, Inc. 57 14 17 139 337 0 564
GeneDx 10 11 188 112 99 0 420
All of Us Research Program, National Institutes of Health 1 1 210 103 5 0 320
Baylor Genetics 2 5 148 0 0 0 155
Quest Diagnostics Nichols Institute San Juan Capistrano 7 4 91 26 16 0 144
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 3 32 61 8 0 104
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 51 36 10 0 103
Sema4, Sema4 0 0 43 25 11 0 79
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 27 18 6 0 54
Illumina Laboratory Services, Illumina 0 0 29 8 16 0 53
PreventionGenetics, part of Exact Sciences 0 0 22 14 8 0 44
Wendy Chung Laboratory, Boston Children's Hospital 0 0 1 0 0 42 43
Counsyl 0 0 23 13 0 0 36
Fulgent Genetics, Fulgent Genetics 0 1 27 0 0 0 28
CeGaT Center for Human Genetics Tuebingen 2 2 5 15 2 0 26
Breakthrough Genomics, Breakthrough Genomics 0 0 3 8 12 0 23
Mayo Clinic Laboratories, Mayo Clinic 0 0 8 6 7 0 21
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 16 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 2 4 7 0 15
University of Washington Department of Laboratory Medicine, University of Washington 4 0 2 7 0 0 13
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 12 12
Genetic Services Laboratory, University of Chicago 0 0 3 7 2 0 12
Molecular Pathology, Peter Maccallum Cancer Centre 1 2 7 0 0 0 10
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 10 0 0 0 10
OMIM 9 0 0 0 0 0 9
Clinical Genetics, Academic Medical Center 0 0 1 1 6 0 8
GeneKor MSA 0 0 4 0 4 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 6 0 8
Revvity Omics, Revvity 2 0 6 0 0 0 8
True Health Diagnostics 0 0 1 6 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 6 0 0 0 6
ITMI 0 0 0 0 0 5 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 5 0 0 0 5
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 1 4 0 0 0 5
3billion 1 1 2 0 0 0 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 0 1 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 4 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 1 3 0 4
Mendelics 1 0 1 0 2 0 4
Catlab - Consorci Sanitari de Terrassa 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 0 1 2 0 3
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 1 0 1 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 0 1 0 0 0 1
Dasa 0 0 1 0 0 0 1
Dr. Guy Rouleau's laboratory, McGill University 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Pathway Genomics 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Sfax Medical Genetics Laboratory, Laboratoire Ksentini 0 1 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1

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