ClinVar Miner

Variants in gene BMPER

Minimum submission review status: Collection method:
Minimum conflict level:
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
15 9 189 125 65 379

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 10 2 80 114 48 247
Diaphanospondylodysostosis 6 5 85 8 27 130
Inborn genetic diseases 0 0 55 1 0 56
BMPER-related disorder 0 1 0 9 0 10
not specified 0 0 5 0 0 5
HP:0003549 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 75 106 26 214
Illumina Laboratory Services, Illumina 0 0 78 7 27 112
Ambry Genetics 0 0 55 1 0 56
GeneDx 1 0 5 0 28 34
PreventionGenetics, part of Exact Sciences 0 1 0 9 0 10
CeGaT Center for Human Genetics Tuebingen 1 0 0 6 1 8
Revvity Omics, Revvity 0 1 6 0 0 7
Breakthrough Genomics, Breakthrough Genomics 0 0 2 5 0 7
OMIM 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 0 3 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
The Danek Gertner Institute of Human Genetics, Sheba Medical Center 0 1 0 0 0 1
3billion 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 0 1 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 1

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