ClinVar Miner

Variants studied for Vein of Galen aneurysmal malformation

Coded as:
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 association total
0 0 2 0 0 9 11

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination uncertain significance association total
CLDN14 2 2 4
EPHB4 0 2 2
KEL 0 2 2
KAT6A 0 1 1
KMT2D 0 1 1
SMARCA2 0 1 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter uncertain significance association total
Yale Center for Mendelian Genomics, Yale University 0 9 9
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 2

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