ClinVar Miner

Variants in gene DTNA

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 not provided total
2 2 110 104 77 1 270

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Left ventricular noncompaction 1 2 1 61 35 15 0 107
not provided 0 0 38 18 49 1 104
not specified 0 0 19 62 30 0 100
Cardiomyopathy, left ventricular noncompaction 0 0 4 0 1 0 5
Cardiomyopathy 0 0 0 0 3 0 3
Primary dilated cardiomyopathy 0 0 3 0 0 0 3
Primary familial hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Arrhythmia; Noncompaction cardiomyopathy 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 0 1
Meniere disease 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy, left ventricular noncompaction; Ventricular tachycardia 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Systolic heart failure 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 0 24 55 67 0 146
Invitae 0 0 58 33 10 0 101
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 12 18 14 0 44
Integrated Genetics/Laboratory Corporation of America 0 0 3 5 16 0 24
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 15 0 1 0 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 3 6 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 2 5 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 6 1 0 8
Blueprint Genetics 0 0 6 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 0 6
Illumina Clinical Services Laboratory,Illumina 0 0 4 0 1 0 5
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
OMIM 2 0 0 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 1 1 0 2
Baylor Genetics 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 1 0 1
Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1

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