ClinVar Miner

Variants studied for Beckwith-Wiedemann syndrome

Coded as:
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Gene type:
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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 not provided total
126 16 540 499 27 8 1201

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKN1C 92 10 531 496 26 0 1140
NSD1 25 5 5 3 1 0 39
H19, H19-ICR, MRPL23 1 0 0 0 0 6 7
DNMT1 0 0 3 0 0 0 3
H19-ICR, MRPL23 0 0 0 0 0 2 2
KCNQ1 2 0 0 0 0 0 2
LOC126807619, LOC129995362, NSD1 2 0 0 0 0 0 2
LOC126807619, NSD1 1 1 0 0 0 0 2
CTSD, H19, IFITM10, IGF2, INS, INS-IGF2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MRPL23, SYT8, TH, TNNI2, TNNT3 1 0 0 0 0 0 1
H19-ICR 1 0 0 0 0 0 1
IGF2R 0 0 1 0 0 0 1
KCNQ1OT1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 104 10 522 492 24 0 1152
Sema4, Sema4 0 0 12 15 10 0 37
Baylor Genetics 0 2 32 0 0 0 34
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 10 0 0 0 0 0 10
OMIM 9 0 0 0 0 0 9
UMR_S938_Pr. Le Bouc INSERM 0 0 0 0 0 8 8
Genetics and Molecular Pathology Laboratory, Hudson Institute of Medical Research 0 0 3 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Mendelics 1 0 0 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Department of Pediatrics, Graduate School of Medicine, Nagasaki University 1 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 1

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