ClinVar Miner

Variants in gene DTNA

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 total
2 2 98 104 77 259

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 19 58 27 96
not provided 0 0 34 11 51 95
Left ventricular noncompaction 1 2 0 30 21 14 63
Left ventricular noncompaction cardiomyopathy 0 0 25 25 7 57
Cardiomyopathy 0 0 0 0 3 3
Primary dilated cardiomyopathy 0 0 3 0 0 3
Primary familial hypertrophic cardiomyopathy 0 0 2 0 0 2
Arrhythmia; Noncompaction cardiomyopathy 0 1 0 0 0 1
Ménière's disease 0 1 0 0 0 1
Primary dilated cardiomyopathy; Left ventricular noncompaction cardiomyopathy; Ventricular tachycardia 0 0 1 0 0 1
Primary dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 24 55 67 146
Illumina Clinical Services Laboratory,Illumina 0 0 25 25 7 57
Invitae 0 0 29 15 10 54
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 12 17 14 43
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 15 0 1 16
Integrated Genetics/Laboratory Corporation of America 0 0 3 1 9 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 2 5 8
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 6 1 8
Blueprint Genetics 0 0 6 0 0 6
PreventionGenetics 0 0 0 0 3 3
OMIM 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 1 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 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1

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