ClinVar Miner

Variants in gene EPG5

Minimum submission review status: Collection method:
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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 total
53 22 318 136 57 569

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Vici syndrome 46 16 302 98 46 499
not provided 7 6 16 50 14 93
not specified 0 0 3 3 5 11
Inborn genetic diseases 0 0 5 0 0 5
Microcephaly 0 0 3 0 0 3
Syndromic retinitis pigmentosa 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 19 2 279 132 49 481
GeneDx 5 6 6 5 9 31
SIB Swiss Institute of Bioinformatics 5 11 6 0 0 22
Baylor Genetics 2 1 10 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 9
OMIM 8 0 0 0 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 4 1 0 7
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 7 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 1 1 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 4 5
Ambry Genetics 0 0 5 0 0 5
Mendelics 3 0 0 0 1 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 2 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 1 1 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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