ClinVar Miner

Variants studied for Bosch-Boonstra-Schaaf optic atrophy 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
24 35 12 0 0 66

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NR2F1 24 34 12 65
FAM172A, KIAA0825, NR2F1, POU5F2 0 1 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 9 0 0 9
Revvity Omics, Revvity 0 1 5 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 2 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 5 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 0 4
3billion 0 3 1 4
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 3
Baylor Genetics 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 2
Institute of Human Genetics, University of Goettingen 0 2 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 2
Molecular Genetics Lab, CHRU Brest 0 2 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1
Mendelics 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 1
Illumina Laboratory Services, Illumina 0 1 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1
Institute of Medical Genetics, ASUI Udine 0 1 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 1

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