ClinVar Miner

Variants studied for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

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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
74 45 337 301 17 753

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AFG2A 71 45 335 301 17 748
AFG2A, FGF2, NUDT6 2 0 1 0 0 3
ADAD1, AFG2A, ANXA5, BBS12, BBS7, BLTP1, CCNA2, EXOSC9, FGF2, IL2, IL21, NDNF, NUDT6, PRDM5, QRFPR, SMIM43, SPRY1, TNIP3, TRPC3 0 0 1 0 0 1
AFG2A, BBS12, FGF2, NUDT6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 64 23 318 300 17 722
Fulgent Genetics, Fulgent Genetics 0 3 6 2 0 11
Baylor Genetics 1 0 7 0 0 8
Revvity Omics, Revvity 2 1 5 0 0 8
OMIM 7 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 3 3 0 0 6
MGZ Medical Genetics Center 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 3 0 0 4
New York Genome Center 0 0 4 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 0 0 0 3
3billion, Medical Genetics 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 2
Genome-Nilou Lab 0 0 1 0 1 2
Bioinformatics Unit, Institut Pasteur de Montevideo 1 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
DASA 1 0 0 0 0 1

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