ClinVar Miner

Variants studied for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Coded as:
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 not provided total
17 13 14 2 0 1 39

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 not provided total
TANGO2 17 13 13 2 1 38
BICD2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 5 4 0 0 11
OMIM 10 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 1 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 4
Fulgent Genetics, Fulgent Genetics 1 1 0 1 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Department of Molecular and Human Genetics, Baylor College of Medicine 3 0 0 0 0 3
Revvity Omics, Revvity 0 1 1 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 2
New York Genome Center 1 0 1 0 0 2
Shieh Lab, University of California, San Francisco 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 1
Mendelics 0 0 1 0 0 1
GeneReviews 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 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
3billion, Medical Genetics 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 1

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