ClinVar Miner

Variants studied for Baraitser-Winter syndrome

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 not provided total
0 1 2 0 0 2 5

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination likely pathogenic uncertain significance not provided total
ACTB 1 2 1 4
ACTG1 0 0 1 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter likely pathogenic uncertain significance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 2 0 2
GeneReviews 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 1

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