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

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
7	22	179	10	6	1	218

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
ASTN2, TRIM32	7	22	178	10	6	1	217
ASTN2	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	22	116	10	0	0	148
Illumina Laboratory Services, Illumina	0	0	59	0	6	0	65
OMIM	5	0	0	0	0	0	5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	4	0	0	0	5
New York Genome Center	0	0	4	0	0	0	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	3	0	0	0	3
Baylor Genetics	0	0	2	0	0	0	2
Mendelics	1	0	0	0	1	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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