ClinVar Miner

Variants in gene ANKRD1

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
0 1 338 212 57 2 533

Condition and significance breakdown #

Total conditions: 18
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Condition likely pathogenic uncertain significance likely benign benign not provided total
ANKRD1-related dilated cardiomyopathy 0 200 132 27 0 359
Cardiovascular phenotype 0 150 60 4 0 214
not provided 1 73 40 27 1 131
not specified 0 19 26 36 0 69
Primary dilated cardiomyopathy 0 31 12 6 0 46
ANKRD1-related disorder 0 6 15 2 0 23
Cardiomyopathy 0 8 3 10 0 21
Congenital total pulmonary venous return anomaly 0 2 8 9 0 15
Dilated Cardiomyopathy, Dominant 0 11 3 0 0 13
Primary familial hypertrophic cardiomyopathy 0 4 1 0 0 5
Hypertrophic cardiomyopathy 2 0 0 0 2 1 3
Hypertrophic cardiomyopathy 0 1 1 0 0 2
Hypertrophic cardiomyopathy 1 0 2 0 0 0 2
Brugada syndrome 0 1 0 0 0 1
Cardiomyopathy; Systolic heart failure 0 0 0 1 0 1
Dilated cardiomyopathy 1A 0 1 0 0 0 1
Left ventricular noncompaction 0 1 0 0 0 1
Long QT syndrome 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 200 133 27 0 360
Ambry Genetics 0 150 60 4 0 214
GeneDx 0 56 29 36 0 121
Illumina Laboratory Services, Illumina 0 38 13 3 0 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 13 21 0 39
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 12 10 6 0 28
Clinical Genetics, Academic Medical Center 0 4 0 24 0 28
PreventionGenetics, part of Exact Sciences 0 6 15 3 0 24
Breakthrough Genomics, Breakthrough Genomics 0 4 7 8 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 7 8 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 4 9 4 0 16
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 7 3 5 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 8 4 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 5 7 0 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 7 2 1 0 10
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 5 2 2 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 3 3 0 8
Eurofins Ntd Llc (ga) 0 4 1 0 0 5
Blueprint Genetics 0 5 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 1 2 2 0 5
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 4 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 3 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 0 0 2 1 3
Genetics and Genomics Program, Sidra Medicine 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 0 0 2
Revvity Omics, Revvity 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 1
New York Genome Center 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1

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