ClinVar Miner

Variants studied for ZTTK syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 19 25 0 0 54

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SON 15 18 25 53
MIR6501, SON 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance total
Baylor Genetics 1 0 19 20
University of Washington Center for Mendelian Genomics, University of Washington 0 17 0 17
OMIM 7 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 2
New York Genome Center 0 1 1 2
Institute of Human Genetics,Cologne University 1 0 0 1
Mendelics 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 1
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 1

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