Variants studied for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

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
75	66	314	450	32	3	911

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
POMT2	71	61	298	437	32	3	878
LOC130056175, POMT2	4	5	8	4	0	0	16
LOC130056177, POMT2	0	0	7	5	0	0	12
LOC130056176, POMT2	0	0	1	4	0	0	5

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	64	21	309	449	31	0	874
Baylor Genetics	11	45	1	0	0	0	57
Fulgent Genetics, Fulgent Genetics	2	1	12	1	0	0	16
OMIM	11	0	0	0	0	0	11
New York Genome Center	1	2	1	0	0	0	4
Genome-Nilou Lab	0	0	0	0	4	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	0	1	0	0	0	3
Genomic Medicine Lab, University of California San Francisco	1	1	1	0	0	0	3
Mendelics	0	0	2	0	0	0	2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	2	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
3billion	0	1	1	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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