ClinVar Miner

Variants in gene combination LDB3, LOC110121486

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Minimum submission review status: Collection method:
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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 total
4 0 37 19 12 58

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic uncertain significance likely benign benign total
Myofibrillar myopathy, ZASP-related 3 24 4 6 35
not specified 0 2 11 6 19
not provided 2 7 3 4 16
Dilated Cardiomyopathy, Dominant 0 7 2 0 9
Left ventricular noncompaction cardiomyopathy 0 7 2 0 9
Myofibrillar Myopathy, Dominant 0 7 2 0 9
Cardiovascular phenotype 0 4 1 3 8
Cardiomyopathy 0 4 0 0 4
Dilated cardiomyopathy 1C 1 1 0 0 2
Dilated cardiomyopathy 1C; Myofibrillar myopathy, ZASP-related 0 1 0 0 1
Familial dilated cardiomyopathy 0 1 0 0 1
Left ventricular noncompaction 1 0 1 0 0 1
Myofibrillar myopathy 1 0 0 0 1
Neuromuscular Diseases 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 2 17 2 6 27
GeneDx 2 6 5 6 19
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 8 4 15
Illumina Clinical Services Laboratory,Illumina 0 7 2 0 9
Ambry Genetics 0 4 1 3 8
PreventionGenetics 0 0 0 5 5
OMIM 3 1 0 0 4
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 4 0 0 4
Biesecker Lab/Human Development Section,National Institutes of Health 0 2 0 1 3
Athena Diagnostics Inc 1 0 0 1 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 1 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 1
GeneReviews 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 0 1

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