ClinVar Miner

Variants studied for Desanto-shinawi 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 total
15 1 2 0 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 total
WAC 15 1 2 18

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 6 0 0 6
Baylor Genetics 1 0 1 2
GeneReviews 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 1
Shieh Lab,University of California, San Francisco 1 0 0 1

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