Variants studied for autosomal recessive limb-girdle muscular dystrophy type 2P

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
10	6	333	208	15	2	566

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	not provided	total
DAG1	9	6	333	208	15	2	565
AMT, ARIH2, ARIH2OS, C3orf62, CCDC71, CIMIP7, DAG1, DALRD3, GPX1, IHO1, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, NICN1, P4HTM, QARS1, QRICH1, RHOA, SLC25A20, TCTA, USP19, USP4, WDR6	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	7	2	329	207	13	0	558
Fulgent Genetics, Fulgent Genetics	0	0	3	1	1	0	5
OMIM	3	0	0	0	0	0	3
Mendelics	0	0	0	0	2	0	2
Institute of Human Genetics, University of Wuerzburg	0	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Baylor Genetics	0	1	0	0	0	0	1
MGZ Medical Genetics Center	0	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1

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