Variants studied for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

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	not provided	total
5	2	78	9	21	1	116

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
LARGE1	5	2	74	9	19	1	110
LARGE1, LOC130067281	0	0	4	0	0	0	4
LARGE1, LOC130067280	0	0	0	0	2	0	2

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	69	9	21	0	99
Fulgent Genetics, Fulgent Genetics	0	0	6	0	0	0	6
OMIM	4	0	0	0	0	0	4
Baylor Genetics	0	0	4	0	0	0	4
Hehr Laboratory, Center for Human Genetics Regensburg	0	1	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Igenomix - Part of Vitrolife Group, Igenomix	0	0	1	0	0	0	1

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