ClinVar Miner

Variants studied for Beckwith-Wiedemann syndrome

Coded as:
Minimum submission review status: Collection method:
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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
81 12 210 22 7 8 340

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 25 1 133 17 1 0 177
NSD1 51 11 74 5 6 0 147
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: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 61 12 206 21 7 0 307
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

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