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	7	10	2	1	28

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	benign	total
L1CAM	8	7	10	2	1	28

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	6	0	0	0	0	6
Fulgent Genetics, Fulgent Genetics	0	0	3	2	0	5
Baylor Genetics	0	1	2	0	0	3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	0	2	0	0	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	0	0	1
Service de Génétique Moléculaire, Hôpital Robert Debré	0	0	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Molecular Genetics Lab, CHRU Brest	0	0	1	0	0	1
DASA	1	0	0	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	1	0	0	0	1

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