ClinVar Miner

Variants studied for Beckwith-Wiedemann syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
146 35 655 528 28 9 1360

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKN1C 100 17 590 516 27 1 1210
KCNQ1 17 11 46 8 0 0 82
NSD1 21 5 4 2 1 0 33
H19, H19-ICR, MRPL23 1 0 0 0 0 6 7
KCNQ1, KCNQ1OT1 0 0 4 2 0 0 6
IGF2, INS-IGF2 0 1 4 0 0 0 5
DNMT1 0 0 3 0 0 0 3
H19-ICR, MRPL23 0 0 0 0 0 2 2
LOC126807619, LOC129995362, NSD1 2 0 0 0 0 0 2
LOC126807619, NSD1 1 1 0 0 0 0 2
ANO9, AP2A2, ASCL2, B4GALNT4, BRSK2, C11orf21, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NLRP6, PGGHG, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PSMD13, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4 0 0 1 0 0 0 1
ANO9, B4GALNT4, CDHR5, DEAF1, DRD4, EPS8L2, HRAS, IFITM1, IFITM2, IFITM3, IFITM5, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, NLRP6, PGGHG, PHRF1, PKP3, PTDSS2, RASSF7, RNH1, SCT, SIGIRR, TALDO1, TMEM80 1 0 0 0 0 0 1
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
POLR2F, SOX10 0 0 1 0 0 0 1
SLC2A1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 107 10 542 507 26 0 1192
Fulgent Genetics, Fulgent Genetics 15 12 128 27 3 0 185
Baylor Genetics 0 2 46 0 0 0 48
Sema4, Sema4 0 0 12 15 10 0 37
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 7 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
3billion 1 1 2 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 3 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Genetics and Molecular Pathology Laboratory, Hudson Institute of Medical Research 0 0 3 0 0 0 3
Department of Clinical Genetics, Aarhus University Hospital 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Mendelics 1 0 0 1 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Department of Pediatrics, Graduate School of Medicine, Nagasaki University 1 0 0 0 0 0 1
Department of Pediatrics, Nagoya University Graduate School of Medicine 1 0 0 0 0 0 1
Department of Pediatrics, The Second Hospital of Hebei Medical University 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 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
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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