ClinVar Miner

Variants studied for progeria

Included ClinVar conditions (14):
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
37 39 140 40 17 25 270

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LMNA 12 11 109 29 9 22 184
POLR3A 19 23 2 3 0 2 33
BANF1 1 0 11 4 5 0 21
LMNA, LOC126805877 0 0 7 1 2 1 11
BANF1, EIF1AD, LOC130006089 0 0 4 1 0 0 5
LMNA, LOC129931597 0 0 3 2 1 0 5
ERCC4 0 2 2 0 0 0 4
BANF1, LOC130006090 0 0 2 0 0 0 2
LOC126860970, POLR3A 2 2 0 0 0 0 2
TOMM7 2 0 0 0 0 0 2
LOC126860971, POLR3A 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 5 3 89 24 2 0 123
Illumina Laboratory Services, Illumina 0 0 47 16 15 0 78
OMIM 21 0 0 0 0 0 21
GeneReviews 0 0 0 0 0 18 18
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 15 0 0 0 0 15
University of Washington Center for Mendelian Genomics, University of Washington 0 12 2 0 0 0 14
Cole/Wambach Lab, Washington University in St. Louis 9 1 0 0 0 0 10
Mendelics 1 3 0 0 1 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Baylor Genetics 3 0 1 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 1 0 0 0 0 3
DASA 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Suma Genomics, Suma Genomics 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
DESAM Institute, Near East University 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1

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