Variants studied for Muscular dystrophy-dystroglycanopathy type B6

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
52	9	297	483	39	858

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LARGE1	52	9	291	483	37	850
LARGE1, LOC130067281	0	0	4	0	0	4
LARGE1, LOC130067280	0	0	0	0	2	2
BPIFC, C22orf42, DEPDC5, FBXO7, LARGE1, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A1, SLC5A4, SYN3, TIMP3, YWHAH	0	0	1	0	0	1
POMGNT1, TSPAN1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	49	8	238	474	26	795
Illumina Laboratory Services, Illumina	0	0	69	9	21	99
OMIM	3	0	0	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	1	2	0	0	3
Baylor Genetics	0	0	1	0	0	1
Department of Molecular and Human Genetics, Baylor College of Medicine	1	0	0	0	0	1
Undiagnosed Diseases Network, NIH	0	0	1	0	0	1

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