ClinVar Miner

Variants studied for Werdnig-Hoffmann disease

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 total
21 3 1 0 0 24

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SMN1 12 3 1 15
IGHMBP2 9 0 0 9

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 17 0 0 17
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 1 1 4
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 2 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 1
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 1 0 0 1

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