ClinVar Miner

Variants studied for aortic valve stenosis

Included ClinVar conditions (7):
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 association not provided total
124 44 416 344 78 1 3 969

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ELN 121 44 414 343 78 0 3 962
ELN, LOC113748410 2 0 0 0 0 0 0 2
ABHD11, CLDN3, CLDN4, EIF4H, ELN, LIMK1, METTL27, TMEM270 1 0 0 0 0 0 0 1
DSP 0 0 1 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 1
HRAS, LRRC56 0 0 0 1 0 0 0 1
PTPRJ 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 95 26 367 322 65 0 0 875
Illumina Laboratory Services, Illumina 0 0 50 29 27 0 0 106
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 21 5 0 0 0 0 0 26
Fulgent Genetics, Fulgent Genetics 0 3 19 2 1 0 0 25
OMIM 13 0 0 0 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Blueprint Genetics 0 0 1 1 0 0 0 2
3billion 1 1 0 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 2 0 0 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Cardiology, Hunan Children’s Hospital 1 0 0 0 0 0 0 1

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