ClinVar Miner

Variants in gene RPS19

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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
61 27 99 75 20 262

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Diamond-Blackfan anemia 40 14 58 66 12 186
Diamond-Blackfan anemia 1 20 5 31 14 11 78
not provided 13 7 17 2 11 49
not specified 0 0 8 2 4 14
RPS19-related disorder 2 2 2 1 0 7
Hepatoblastoma 0 0 1 0 0 1
Landsteiner-Wiener phenotype 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 33 5 49 59 12 158
Ambry Genetics 16 8 6 9 1 40
GeneDx 10 3 8 1 6 28
Illumina Laboratory Services, Illumina 0 0 12 6 9 27
Fulgent Genetics, Fulgent Genetics 0 0 12 11 1 24
Genetic Services Laboratory, University of Chicago 0 3 6 1 2 12
OMIM 9 0 0 0 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 7 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 6 7
PreventionGenetics, part of Exact Sciences 2 2 2 1 0 7
CeGaT Center for Human Genetics Tuebingen 2 1 1 0 3 7
Revvity Omics, Revvity 3 0 3 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 1 4
3billion 1 2 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 4
Baylor Genetics 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 1
BloodGenetics 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 1

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