ClinVar Miner

Variants studied for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
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 risk factor total
110 11 91 33 32 1 266

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
SLC52A3 31 2 38 14 11 0 88
SLC52A2 18 4 43 16 7 0 86
AR 19 3 6 2 5 0 35
SMN1 28 2 2 0 0 0 30
AR, LOC109504725 4 0 2 1 9 1 17
IGHMBP2 9 0 0 0 0 0 9
SMN2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 24 4 83 33 31 0 175
GeneReviews 47 0 1 0 1 1 50
OMIM 48 0 0 0 0 0 48
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 6 2 2 0 0 0 10
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
Fulgent Genetics 1 0 1 0 0 0 2
Duke University Health System Sequencing Clinic,Duke University Health System 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Counsyl 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genome.One 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1

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