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
91 31 430 264 27 5 779

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 50 14 253 173 13 0 483
Juvenile polyposis syndrome 41 10 236 93 14 0 386
not provided 7 7 103 12 16 0 137
not specified 0 0 25 86 18 5 123
Juvenile Polyposis 0 0 16 19 5 0 40
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 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: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 33 7 231 82 14 0 367
Color 4 1 158 121 12 0 296
Ambry Genetics 43 13 153 73 5 0 287
GeneDx 8 6 74 81 11 0 180
Illumina Clinical Services Laboratory,Illumina 0 0 17 19 5 0 41
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 25 5 10 0 40
Integrated Genetics/Laboratory Corporation of America 1 1 24 6 6 0 38
Counsyl 0 0 23 13 0 0 36
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
OMIM 10 0 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 5 0 9
True Health Diagnostics 0 0 1 6 0 0 7
Fulgent Genetics 0 0 5 0 0 0 5
ITMI 0 0 0 0 0 5 5
Biesecker Lab/Human Development 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
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 Medical Center 0 0 1 1 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Pathway Genomics 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Division of Human Genetics,Cincinnati Children's Hospital 0 1 0 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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