ClinVar Miner

Variants studied for aortic valve disease 2

Included ClinVar conditions (3):
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
72 19 484 287 41 1 895

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
SMAD6 7 10 403 182 14 1 608
TBX5 65 9 79 105 27 0 285
LOC110120917, LOC111413015, LOC111413043, LOC121847954, LOC125110346, LOC125110347, LOC126862158, LOC126862159, LOC126862160, LOC130057347, LOC130057348, LOC130057349, LOC130057350, LOC130057351, LOC130057352, LOC132090322, LOC132090323, SMAD3, SMAD3-DT, SMAD6, SMASR 0 0 1 0 0 0 1
TBX3, TBX5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 9 473 286 40 0 873
Baylor Genetics 0 3 5 0 0 0 8
Revvity Omics, Revvity 0 1 5 0 0 0 6
OMIM 5 0 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 1 3 0 0 4
New York Genome Center 0 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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