Variants studied for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

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
100	29	283	419	53	876

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
POMT1	100	29	282	419	53	875
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	95	22	276	419	47	859
Fulgent Genetics, Fulgent Genetics	4	2	15	1	0	22
Genome-Nilou Lab	0	0	0	0	14	14
OMIM	6	0	0	0	0	6
Athena Diagnostics	0	0	0	0	6	6
Baylor Genetics	0	1	1	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	1	0	0	2
New York Genome Center	1	1	0	0	0	2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	2	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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