ClinVar Miner

Variants studied for Adams-Oliver syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
24 20 36 10 12 3 103

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DOCK6 24 20 36 10 12 2 102
NOTCH1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 4 1 11 1 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 12 0 12
Fulgent Genetics, Fulgent Genetics 0 1 6 5 0 0 12
3billion 4 1 2 3 0 0 10
Genome-Nilou Lab 0 0 0 0 9 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 5 0 0 0 9
Baylor Genetics 0 1 7 0 0 0 8
OMIM 7 0 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 1 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Centre of Medical Genetics, University of Antwerp 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Mendelics 0 1 0 0 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Medical Genetics, Gazi University 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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