ClinVar Miner

Variants studied for Danon disease

Coded as:
Minimum submission review status: Collection method:
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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
90 18 232 153 75 1 548

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LAMP2 90 18 230 153 75 1 546
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 1
CUL4B, LAMP2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 6 181 143 31 0 426
Illumina Laboratory Services, Illumina 0 0 43 4 50 0 97
Fulgent Genetics, Fulgent Genetics 0 0 21 3 1 0 25
OMIM 13 0 0 0 0 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 4 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 1 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 5 0 5
Baylor Genetics 2 0 2 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 1 0 0 3
Mendelics 1 0 0 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 1 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 1
Department of Cardiovascular Medicine, The University of Tokyo, Graduate School of Medicine 0 1 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 1

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