ClinVar Miner

Variants in gene LDB3

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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
7 4 232 173 97 1 438

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 4 74 82 69 0 214
not specified 0 0 63 96 49 1 185
Myofibrillar myopathy, ZASP-related 1 0 117 11 5 0 133
Cardiovascular phenotype 0 0 27 21 14 0 62
Cardiomyopathy 0 0 20 6 14 0 38
Left ventricular noncompaction cardiomyopathy 0 0 13 6 0 0 19
Dilated Cardiomyopathy, Dominant 0 0 12 5 0 0 17
Myofibrillar Myopathy, Dominant 0 0 12 5 0 0 17
Primary familial hypertrophic cardiomyopathy 0 0 8 1 0 0 9
Dilated cardiomyopathy 1C 4 0 1 0 0 0 5
Familial dilated cardiomyopathy 0 0 5 0 0 0 5
Hypertrophic cardiomyopathy 0 0 3 1 0 0 4
Dilated cardiomyopathy 1C; Myofibrillar myopathy, ZASP-related 0 0 3 0 0 0 3
Familial hypertrophic cardiomyopathy 24 2 0 0 0 0 0 2
Primary dilated cardiomyopathy 0 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1
Cardiomyopathy; Long QT syndrome 0 0 0 1 0 0 1
Dilated cardiomyopathy 0 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 1 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 14 0 0 1 0 0 0 1
Left ventricular noncompaction 3 1 0 0 0 0 0 1
Myofibrillar myopathy 1 0 0 0 0 0 1
Ventricular tachycardia 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 103 59 32 0 193
GeneDx 0 1 51 77 61 0 190
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 55 42 23 1 121
Ambry Genetics 0 0 27 21 14 0 62
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 19 5 10 0 34
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 10 3 7 0 20
PreventionGenetics,PreventionGenetics 0 0 0 8 10 0 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 9 4 4 0 17
Illumina Clinical Services Laboratory,Illumina 0 0 12 5 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 12 4 0 0 17
Integrated Genetics/Laboratory Corporation of America 0 0 0 4 11 0 15
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 8 4 1 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 7 0 10
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 9 0 0 0 9
Blueprint Genetics 0 0 4 4 0 0 8
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 2 4 1 0 7
OMIM 6 0 0 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 6 0 6
Klaassen Lab,Charite University Medicine Berlin 0 0 4 0 0 0 4
Mendelics 0 0 2 0 1 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1

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