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
135 50 740 383 43 7 1269

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 63 18 404 250 13 0 721
Juvenile polyposis syndrome 44 12 378 116 0 0 550
Generalized juvenile polyposis/juvenile polyposis coli 49 16 208 70 25 1 359
not provided 10 10 111 68 24 1 211
not specified 0 0 36 97 21 5 144
Hereditary mixed polyposis syndrome 2 1 2 3 0 4 0 10
Generalized juvenile polyposis/juvenile polyposis coli; Hereditary mixed polyposis syndrome 2 0 0 5 0 0 0 5
Carcinoma of colon 0 0 1 3 0 0 4
Malignant tumor of breast 0 0 2 1 0 0 3
none provided 0 0 0 0 3 0 3
Juvenile Polyposis 0 1 0 1 0 0 2
See cases 1 0 1 0 0 0 2
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 1 0 0 0 1
BMPR1A Skeletal Dysplasia Syndrome 0 1 0 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 1
Gastrointestinal polyposis 0 0 0 1 0 0 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
Pulmonary arterial hypertension associated with congenital heart disease 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 73 18 511 184 15 0 801
Ambry Genetics 55 16 263 127 5 0 466
Color Health, Inc 6 2 255 182 12 0 457
GeneDx 8 7 74 89 18 0 196
Quest Diagnostics Nichols Institute San Juan Capistrano 3 2 35 10 16 0 65
Illumina Clinical Services Laboratory,Illumina 0 0 38 9 17 0 64
Integrated Genetics/Laboratory Corporation of America 2 1 32 18 7 0 60
Counsyl 0 0 23 13 0 0 36
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 6 5 6 0 19
PreventionGenetics, PreventionGenetics 0 0 5 5 8 0 18
University of Washington Department of Laboratory Medicine, University of Washington 4 0 2 7 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 4 6 0 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 7 0 11
OMIM 9 0 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 2 0 0 7
True Health Diagnostics 0 0 1 6 0 0 7
Fulgent Genetics,Fulgent Genetics 0 0 5 0 0 0 5
ITMI 0 0 0 0 0 5 5
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 3 0 1 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 4 0 0 0 4
GeneKor MSA 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 1 0 0 2 0 3
Mendelics 1 0 0 0 2 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 2 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Pathway Genomics 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Wendy Chung Laboratory,Columbia University Medical Center 0 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 1 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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