ClinVar Miner

Variants studied for Hutchinson-Gilford progeria syndrome

Included ClinVar conditions (9):
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
12 13 121 32 13 23 205

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
LMNA 12 11 109 29 10 22 185
LMNA, LOC126805877 0 0 7 1 2 1 11
LMNA, LOC129931597 0 0 3 2 1 0 5
ERCC4 0 2 2 0 0 0 4

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 5 3 89 21 2 0 120
Illumina Laboratory Services, Illumina 0 0 30 11 11 0 52
GeneReviews 0 0 0 0 0 18 18
Mendelics 1 3 0 0 1 0 5
OMIM 4 0 0 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 0 2 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 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
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 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 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
3billion 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1

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