ClinVar Miner

Variants studied for Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

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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
6 8 26 1 0 40

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
MAST1 4 7 19 1 31
LOC112543452, MAST1 0 0 7 0 7
LOC117125587, MAST1 2 1 0 0 2

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Baylor Genetics 0 1 4 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 2 0 5
OMIM 4 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 3
New York Genome Center 0 0 3 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 1
Mendelics 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 1
3billion, Medical Genetics 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 1
Watson Genetic Lab 0 1 0 0 1

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