ClinVar Miner

Variants studied for aortic stenosis

Included ClinVar conditions (5):
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 not provided total
73 21 111 59 40 1 290

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ELN 71 21 110 58 40 1 286
ABHD11, CLDN3, CLDN4, EIF4H, ELN, LIMK1, METTL27, TMEM270 1 0 0 0 0 0 1
DSP 0 0 1 0 0 0 1
ELN, LOC113748410 1 0 0 0 0 0 1
HRAS, LRRC56 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 45 15 65 35 22 0 182
Illumina Clinical Services Laboratory,Illumina 0 0 49 29 27 0 105
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 20 4 0 0 0 0 24
OMIM 13 0 0 0 0 0 13
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Blueprint Genetics 0 0 1 1 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1

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