Variants studied for congenital muscular dystrophy due to integrin alpha-7 deficiency

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
38	24	412	322	53	3	835

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
ITGA7	30	19	344	278	46	3	704
ITGA7, LOC126861535	7	5	68	44	6	0	129
CRPPA	1	0	0	0	0	0	1
ITGA7, TMT1B	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	34	10	377	320	51	0	792
Revvity Omics, Revvity	0	13	106	0	0	0	119
Fulgent Genetics, Fulgent Genetics	0	0	6	3	0	0	9
Baylor Genetics	0	0	7	0	0	0	7
Genome-Nilou Lab	0	0	0	0	7	0	7
Genomic Research Center, Shahid Beheshti University of Medical Sciences	2	1	1	0	0	0	4
OMIM	3	0	0	0	0	0	3
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	0	1	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Institute of Immunology and Genetics Kaiserslautern	0	1	0	0	0	0	1

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