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
11 6 358 216 105 2 603

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myofibrillar myopathy, ZASP-related 1 0 247 92 32 0 364
not specified 0 0 71 103 52 1 199
not provided 0 4 76 57 48 1 182
Cardiovascular phenotype 0 0 24 24 14 0 62
Cardiomyopathy 0 0 27 10 22 0 57
Dilated cardiomyopathy 1C 8 2 36 4 2 0 52
Myofibrillar Myopathy, Dominant 0 0 12 5 0 0 17
Cardiomyopathy, left ventricular noncompaction 0 0 11 5 0 0 16
none provided 0 0 4 2 10 0 16
Dilated Cardiomyopathy, Dominant 0 0 6 4 0 0 10
Primary familial hypertrophic cardiomyopathy 0 0 8 1 0 0 9
Primary dilated cardiomyopathy 0 0 3 3 0 0 6
Hypertrophic cardiomyopathy 0 0 3 2 0 0 5
Primary familial dilated cardiomyopathy 0 0 5 0 0 0 5
Dilated cardiomyopathy 1A 0 0 3 0 0 0 3
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
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1
Cardiomyopathy; Long QT syndrome 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
Isolated Noncompaction of the Ventricular Myocardium 0 0 1 0 0 0 1
Left ventricular noncompaction 1 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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 223 99 32 0 353
GeneDx 0 1 51 77 61 0 190
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 56 42 23 1 122
Ambry Genetics 0 0 24 24 14 0 62
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 26 9 18 0 53
Integrated Genetics/Laboratory Corporation of America 0 0 7 11 19 0 37
Illumina Clinical Services Laboratory,Illumina 0 0 24 5 1 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 15 6 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 7 2 12 0 21
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 10 3 7 0 20
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 12 6 1 0 20
Cytogenetics Laboratory,Banaras Hindu University 4 2 9 3 1 0 19
PreventionGenetics, PreventionGenetics 0 0 0 8 10 0 18
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 9 4 4 0 17
Athena Diagnostics Inc 0 0 0 0 9 0 9
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
Klaassen Lab,Charite University Medicine Berlin 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Mendelics 0 0 2 0 1 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
Loeys Lab,Universiteit Antwerpen 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1

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