ClinVar Miner

Variants in gene CAD

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
60 38 630 1236 69 45 2010

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 53 26 515 1219 68 0 1854
Inborn genetic diseases 0 0 178 11 1 0 190
Developmental and epileptic encephalopathy, 50 10 11 37 4 5 1 67
not specified 0 0 30 12 11 0 52
CAD-related disorder 0 0 4 32 3 0 39
Ovarian serous cystadenocarcinoma 0 0 0 0 0 10 10
Infantile epileptic dyskinetic encephalopathy 2 5 0 0 0 0 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Melanoma 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Coronary artery disease, autosomal dominant 2 0 0 4 0 0 0 4
Familial cancer of breast 0 0 0 0 0 4 4
Meniere disease 0 0 4 0 0 0 4
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Epilepsy; Intellectual disability; Congenital anomaly of face 0 0 1 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 53 14 479 1199 43 0 1788
Ambry Genetics 0 0 178 11 1 0 190
GeneDx 3 8 42 2 30 0 85
CeGaT Center for Human Genetics Tuebingen 1 4 23 49 1 0 78
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 30 8 1 0 46
Breakthrough Genomics, Breakthrough Genomics 0 0 6 11 27 0 44
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 44 44
PreventionGenetics, part of Exact Sciences 0 0 4 32 3 0 39
Mayo Clinic Laboratories, Mayo Clinic 0 1 7 3 11 0 22
Baylor Genetics 0 0 15 0 0 0 15
Gharavi Laboratory, Columbia University 0 0 10 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 4 0 9
Fulgent Genetics, Fulgent Genetics 0 7 0 1 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 6 0 0 0 8
Revvity Omics, Revvity 0 1 5 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 1 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 4 0 0 0 5
OMIM 5 0 0 0 0 0 5
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 4 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 3 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 2 1 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 2 0 0 3
Mendelics 1 1 0 1 0 0 3
3billion 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Dasa 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 1 0 0 0 0 0 1

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