ClinVar Miner

Variants studied for Sheldon-hall syndrome

Included ClinVar conditions (7):
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 total
15 17 128 38 62 249

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYH3 6 5 101 38 43 187
TNNT3 3 3 17 0 12 32
TNNI2 6 7 9 0 7 27
TPM2 0 1 1 0 0 2
LOC130060295, MYH3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 103 36 42 181
Genome-Nilou Lab 0 0 0 0 30 30
OMIM 12 0 0 0 0 12
SIB Swiss Institute of Bioinformatics 2 2 3 0 0 7
Baylor Genetics 3 0 3 0 0 6
Fulgent Genetics, Fulgent Genetics 0 2 1 2 1 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 5
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 2
Revvity Omics, Revvity 0 1 1 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 1
Pars Genome Lab 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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