Variants studied for megacystis-microcolon-intestinal hypoperistalsis syndrome 5

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
11	7	4	0	4	24

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
ACTG2	11	7	4	4	24

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	9	0	0	0	9
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	2	0	2	0	4
Genome-Nilou Lab	0	0	0	4	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	1	0	2
New York Genome Center	1	1	0	0	2
Institute of Human Genetics, University of Goettingen	1	0	0	0	1
MGZ Medical Genetics Center	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	0	1
Molecular Genetics Lab, CHRU Brest	1	0	0	0	1
3billion	0	0	1	0	1
Suma Genomics	1	0	0	0	1

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