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 4 205 125 56 1 333

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 64 95 49 1 184
Myofibrillar myopathy, ZASP-related 1 0 91 29 30 0 147
not provided 0 4 69 4 7 0 82
Cardiovascular phenotype 0 0 27 21 14 0 62
Cardiomyopathy 0 0 19 6 14 0 37
Left ventricular noncompaction cardiomyopathy 0 0 12 6 0 0 18
Dilated Cardiomyopathy, Dominant 0 0 12 5 0 0 17
Myofibrillar Myopathy, Dominant 0 0 12 5 0 0 17
Dilated cardiomyopathy 1C 4 0 1 0 0 0 5
Primary familial hypertrophic cardiomyopathy 0 0 4 1 0 0 5
Dilated cardiomyopathy 1C; Myofibrillar myopathy, ZASP-related 0 0 3 0 0 0 3
Familial dilated cardiomyopathy 0 0 2 0 0 0 2
Familial hypertrophic cardiomyopathy 24 2 0 0 0 0 0 2
Primary dilated cardiomyopathy 0 0 0 2 0 0 2
Familial hypertrophic cardiomyopathy 1 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 14 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 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

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 79 24 30 0 133
GeneDx 0 1 51 57 22 0 131
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 57 40 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/Human Development Section,National Institutes of Health 0 0 10 3 7 0 20
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
Integrated Genetics/Laboratory Corporation of America 0 0 1 3 11 0 15
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 9 0 0 0 9
Blueprint Genetics, 0 0 4 4 0 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 3 2 1 0 7
OMIM 6 0 0 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 6 0 6
Fulgent Genetics 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 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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