ClinVar Miner

Variants in gene PDGFB

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
13 10 79 47 36 173

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 8 6 49 42 36 135
Inborn genetic diseases 0 0 29 0 0 29
Basal ganglia calcification, idiopathic, 5 5 4 3 0 0 12
PDGFB-related disorder 1 0 3 4 1 9
not specified 0 0 4 0 2 6
Dermatofibrosarcoma protuberans 1 0 1 1 2 4
Familial meningioma 0 0 1 0 0 1
Familial meningioma; Idiopathic basal ganglia calcification 1; Basal ganglia calcification, idiopathic, 5 0 0 0 1 0 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 1
Idiopathic basal ganglia calcification 1 0 0 1 0 0 1
Meningioma 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 4 2 29 24 13 72
GeneDx 4 1 19 13 24 61
Ambry Genetics 0 0 29 0 0 29
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 13 18
CeGaT Center for Human Genetics Tuebingen 0 2 2 7 3 14
PreventionGenetics, part of Exact Sciences 1 0 3 4 1 9
OMIM 7 0 0 0 0 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 2 3 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 2 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 2 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1

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