ClinVar Miner

Variants studied for Wiskott-Aldrich syndrome 2

Included ClinVar conditions (1):
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
3 0 128 115 14 258

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign benign total
WIPF1 3 126 115 14 256
CHRNA1, WIPF1 0 1 0 0 1
LOC129935136, WIPF1 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 1 125 115 14 255
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 0 4
OMIM 2 0 0 0 2
Baylor Genetics 0 1 0 0 1
Revvity Omics, Revvity 0 1 0 0 1
Mendelics 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 1
New York Genome Center 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 1

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