ClinVar Miner

Variants studied for Supravalvar aortic stenosis

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
73 21 109 58 40 287

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ELN 71 21 109 58 40 285
ABHD11, CLDN3, CLDN4, EIF4H, ELN, LIMK1, METTL27, TMEM270 1 0 0 0 0 1
ELN, LOC113748410 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 45 15 65 35 22 182
Illumina Clinical Services Laboratory,Illumina 0 0 49 29 27 105
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 20 4 0 0 0 24
OMIM 13 0 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1

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