ClinVar Miner

Variants studied for Danon disease

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
46 9 127 64 67 306

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LAMP2 46 9 126 64 67 305
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 27 2 82 57 22 190
Illumina Clinical Services Laboratory,Illumina 0 0 43 4 50 97
OMIM 12 0 0 0 0 12
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 7 4 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 5 1 7
Baylor Genetics 2 0 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 1
Mendelics 0 0 0 1 0 1
Blueprint Genetics 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 1
Clinical Genetics Laboratory,University Hospital Schleswig-Holstein 0 1 0 0 0 1

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