ClinVar Miner

Variants in gene DTNA

Minimum submission review status: Collection method:
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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 4 282 254 108 1 608

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Left ventricular noncompaction 1 2 2 233 178 28 0 433
not provided 0 0 55 69 77 1 191
not specified 0 0 27 56 31 0 105
DTNA-related condition 0 0 7 13 3 0 23
Inborn genetic diseases 0 0 13 0 0 0 13
Left ventricular noncompaction cardiomyopathy 0 0 4 0 1 0 5
Primary dilated cardiomyopathy 0 1 3 0 0 0 4
Cardiomyopathy 0 0 0 0 3 0 3
Hypertrophic cardiomyopathy 0 0 1 1 0 0 2
Primary familial hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Cardiac arrhythmia; Noncompaction cardiomyopathy 0 1 0 0 0 0 1
Meniere disease 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Left ventricular noncompaction cardiomyopathy; 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: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 221 171 28 0 420
GeneDx 0 0 26 83 94 0 203
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 12 18 14 0 44
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 12 10 19 0 41
PreventionGenetics, part of Exact Sciences 0 0 7 13 6 0 26
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 6 14 1 0 21
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 5 5 7 0 17
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 5 9 0 15
Ambry Genetics 0 0 13 0 0 0 13
CeGaT Center for Human Genetics Tuebingen 0 0 3 9 1 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 8 0 0 10
AiLife Diagnostics, AiLife Diagnostics 0 0 7 0 0 0 7
Blueprint Genetics 0 0 6 0 0 0 6
Revvity Omics, Revvity 0 0 5 0 0 0 5
Illumina Laboratory Services, Illumina 0 0 4 0 1 0 5
Baylor Genetics 0 0 4 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 0 1 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 2 0 4
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 Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 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
Daryl Scott Lab, Baylor College of Medicine 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
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 1 0 0 0 0 1
Genotypic Technology Pvt Ltd 0 0 1 0 0 0 1

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