Variants studied for MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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	6	16	3	0	31

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
L1CAM	6	6	16	3	31

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Juno Genomics, Hangzhou Juno Genomics, Inc	6	1	3	0	10
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	6	1	7
Fulgent Genetics, Fulgent Genetics	0	2	3	2	7
Institute of Immunology and Genetics Kaiserslautern	0	0	2	0	2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	0	2	0	0	2
Baylor Genetics	0	1	0	0	1
Molecular Genetics Lab, CHRU Brest	0	0	1	0	1
Service de Génétique Moléculaire, Hôpital Robert Debré	0	0	1	0	1

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