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
44 8 47 45 11 1 152

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ELN 43 8 46 44 11 1 149
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: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 22 38 8 0 68
Invitae 14 4 24 6 2 0 50
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
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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