ClinVar Miner

Variants studied for visceral myopathy 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
28 17 130 10 16 9 195

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH11 0 4 67 8 6 0 85
MYH11, NDE1 2 1 53 2 6 0 63
ACTG2 23 11 8 0 4 9 41
DLGAP4, MYL9 0 1 1 0 0 0 2
MYLK 2 0 0 0 0 0 2
LMOD1 1 0 0 0 0 0 1
MYL9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 3 2 111 9 0 0 125
Genome-Nilou Lab 0 0 0 0 16 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 11 1 0 0 12
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 10 0 0 0 0 0 10
GeneReviews 0 0 0 0 0 9 9
OMIM 8 0 0 0 0 0 8
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini 3 1 3 0 0 0 7
Wangler Lab, Baylor College of Medicine 4 0 1 0 0 0 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 1 0 0 0 0 5
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Clinical Genetics, Erasmus University Medical Center 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, Hospital Sainte-Justine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Department of Immunology, Genetics and Pathology, Uppsala University 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Department of Paediatric Surgery, The Canberra Hospital 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Molecular Genetics Laboratory, State University of Campinas 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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