ClinVar Miner

Variants studied for Lowry-Wood syndrome

Included ClinVar conditions (3):
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
11 5 4 1 0 18

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
CLASP1, RNU4ATAC 11 5 4 1 18

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 8 0 0 0 8
Fulgent Genetics, Fulgent Genetics 4 2 1 1 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 2

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