Variants studied for MASA 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)
		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
8	9	8	0	1	26

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
L1CAM	8	9	8	1	26

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	6	0	0	0	6
3billion	0	1	1	0	2
Baylor Genetics	0	0	2	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	1
Clinical Genetics Laboratory, Region Ostergotland	0	1	0	0	1
DASA	1	0	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	1	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	1	0	0	1
Genome-Nilou Lab	0	0	0	1	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	1	0	0	1
Wenzhou Central Hospital	0	1	0	0	1

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