ClinVar Miner

Variants studied for caudal regression-sirenomelia spectrum

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
0 1 91 15 71 178

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination likely pathogenic uncertain significance likely benign benign total
VANGL1 0 91 15 58 164
CASQ2, VANGL1 0 0 0 13 13
CDX2 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 91 15 71 177
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 1

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