Variants studied for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

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
71	25	314	450	32	3	886

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	67	24	298	437	32	3	853
LOC130056175, POMT2	4	1	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: 14

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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
Fulgent Genetics, Fulgent Genetics	2	1	12	1	0	0	16
OMIM	7	0	0	0	0	0	7
New York Genome Center	1	2	1	0	0	0	4
Genome-Nilou Lab	0	0	0	0	4	0	4
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	2	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	1	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	0	1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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