ClinVar Miner

Variants in gene LAMP2

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
45 23 120 88 25 1 266

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Danon disease 34 16 61 41 11 0 155
not specified 0 0 30 49 16 1 84
Hypertrophic cardiomyopathy 0 0 37 26 0 0 63
not provided 17 8 22 2 4 0 53
Cardiovascular phenotype 0 0 10 6 6 0 22
History of neurodevelopmental disorder 0 0 1 3 5 0 9
Cardiomyopathy 0 0 7 0 1 0 8
Danon disease; Cardiomyopathy 1 0 1 0 2 0 4
Primary familial hypertrophic cardiomyopathy 0 1 2 0 1 0 4
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Trifascicular block on electrocardiogram 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 16 4 19 32 14 0 85
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 14 25 20 4 1 74
Illumina Clinical Services Laboratory,Illumina 0 0 37 26 0 0 63
Invitae 14 0 24 13 10 0 61
Ambry Genetics 0 0 11 8 6 0 25
OMIM 12 0 0 0 0 0 12
Blueprint Genetics, 1 3 5 0 0 0 9
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 7 0 1 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 3 1 2 0 8
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 5 1 0 7
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 2 3 0 6
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 1 3 0 1 0 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 4 0 0 4
PreventionGenetics 0 0 0 0 3 0 3
Integrated Genetics/Laboratory Corporation of America 0 1 1 0 1 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 0 1

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