Variants studied for Visceral myopathy 1

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
25	13	10	0	4	9	48

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
ACTG2	22	10	8	4	9	40
DLGAP4, MYL9	0	1	1	0	0	2
MYH11	0	2	0	0	0	2
MYLK	2	0	0	0	0	2
LMOD1	1	0	0	0	0	1
MYL9	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 30

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	10	0	0	0	0	10
GeneReviews	0	0	0	0	9	9
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini	3	1	3	0	0	7
OMIM	6	0	0	0	0	6
Fulgent Genetics, Fulgent Genetics	3	0	2	0	0	5
Wangler Lab, Baylor College of Medicine	4	0	1	0	0	5
Center for Human Genetics, Inc, Center for Human Genetics, Inc	2	1	1	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	4	0	0	0	0	4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	3	1	0	0	0	4
Genome-Nilou Lab	0	0	0	4	0	4
Baylor Genetics	2	0	1	0	0	3
Clinical Genetics, Erasmus University Medical Center	2	0	0	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	1	0	0	0	2
Molecular Diagnostics Laboratory, Hospital Sainte-Justine	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Mendelics	0	0	0	1	0	1
Department of Immunology, Genetics and Pathology, Uppsala University	1	0	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	1	0	0	0	1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	0	1	0	0	0	1
Department of Paediatric Surgery, The Canberra Hospital	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	1
Molecular Genetics Laboratory, State University of Campinas	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	1	0	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	1
Genomics Facility, Ludwig-Maximilians-Universität München	0	1	0	0	0	1
3billion, Medical Genetics	1	0	0	0	0	1
DASA	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1

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