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
116 45 579 319 42 5 1027

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 60 20 339 207 13 0 615
Juvenile polyposis syndrome 63 17 387 112 25 0 591
not provided 8 9 107 60 26 0 201
not specified 0 0 24 90 18 5 125
Juvenile polyposis syndrome; Hereditary mixed polyposis syndrome 2 0 0 5 0 0 0 5
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
Hereditary mixed polyposis syndrome 2 1 0 0 0 0 0 1
Juvenile Polyposis 0 0 0 1 0 0 1
Juvenile polyposis of infancy 1 0 0 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: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 54 14 350 136 15 0 569
Ambry Genetics 53 19 265 125 5 0 467
Color 4 1 158 121 12 0 296
GeneDx 8 7 74 89 18 0 196
Illumina Clinical Services Laboratory,Illumina 0 0 38 9 17 0 64
Quest Diagnostics Nichols Institute San Juan Capistrano 2 2 33 5 14 0 55
Integrated Genetics/Laboratory Corporation of America 1 1 20 10 6 0 38
Counsyl 0 0 23 13 0 0 36
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 Genetic Testing 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 10 0 0 0 0 0 10
True Health Diagnostics 0 0 1 6 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 2 0 0 6
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
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 Genomics Lab,St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 1 0 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
Department of Molecular Diagnostics,Institute of Oncology 0 1 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 1 0 0 0 1

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