ClinVar Miner

Variants studied for Skraban-Deardorff syndrome

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
22 14 16 1 3 55

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WDR26 20 13 14 1 2 49
WDR62 0 1 2 0 0 3
CNIH3, CNIH4, LOC112577544, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, LOC129932592, MIR4742, NVL, WDR26 1 0 0 0 0 1
CNIH4, LOC112577544, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, MIR4742, NVL, WDR26 1 0 0 0 0 1
MIR4742, WDR26 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 6 0 0 7
OMIM 6 0 0 0 0 6
Mendelics 4 1 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 1 0 0 4
Baylor Genetics 1 0 2 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Pars Genome Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 1 0 0 0 0 1

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