Variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

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
36	69	21	1	9	131

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
POMGNT1, TSPAN1	34	53	20	0	8	110
POMGNT1	2	16	1	1	1	21

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	28	46	5	0	0	79
Myriad Genetics, Inc.	2	19	1	0	0	22
Genome-Nilou Lab	0	0	12	1	9	22
OMIM	11	0	0	0	0	11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	2	0	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
Mendelics	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Pars Genome Lab	0	0	1	0	0	1
3billion	0	0	1	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1

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