ClinVar Miner

Variants in gene PRG4

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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
29 10 133 41 13 219

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 2 0 126 10 0 138
not provided 6 0 3 20 10 39
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 23 9 4 0 5 38
PRG4-related disorder 0 0 0 14 3 17
not specified 0 0 0 0 3 3
See cases 0 0 0 2 0 2
Abnormality of the skeletal system 0 1 0 0 0 1
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 2 0 126 10 0 138
CeGaT Center for Human Genetics Tuebingen 4 0 2 16 0 22
PreventionGenetics, part of Exact Sciences 0 0 0 14 3 17
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 7 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 1 1 0 0 7
Yale Center for Mendelian Genomics, Yale University 7 0 0 0 0 7
OMIM 5 0 0 0 0 5
GeneDx 2 0 1 1 1 5
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 3 4
3billion 4 0 0 0 0 4
Revvity Omics, Revvity 2 0 1 0 0 3
Centogene AG - the Rare Disease Company 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 2 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 2 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 2
Mendelics 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Cirak Lab, University Hospital Cologne 0 0 1 0 0 1

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