ClinVar Miner

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

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
6 7 24 1 0 37

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 6 18 1 29
LOC112543452, MAST1 0 0 6 0 6
LOC117125587, MAST1 2 1 0 0 2

Submitter and significance breakdown #

Total submitters: 22
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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
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
Fulgent Genetics, Fulgent Genetics 0 0 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 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
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 1
3billion 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Solve-RD Consortium 0 1 0 0 1
Watson Genetic Lab 0 1 0 0 1

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