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
123 28 328 152 52 8 689

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKN1C 37 5 207 122 21 0 390
NSD1 81 23 118 30 31 0 283
H19, H19-ICR, MRPL23 1 0 0 0 0 6 7
DNMT1 0 0 3 0 0 0 3
H19 2 0 0 0 0 0 2
H19-ICR, MRPL23 0 0 0 0 0 2 2
H19-ICR 1 0 0 0 0 0 1
KCNQ1OT1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 103 27 324 152 52 0 658
OMIM 11 0 0 0 0 0 11
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 10 0 0 0 0 0 10
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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 1 0 0 0 0 1

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