ClinVar Miner

Variants studied for Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax 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 not provided total
1 0 8 7 0 1 17

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign not provided total
MTOR 1 8 7 1 17

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign not provided total
Fulgent Genetics, Fulgent Genetics 0 7 5 0 12
3billion 0 0 1 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 1
New York Genome Center 0 1 0 0 1

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