ClinVar Miner

Variants studied for Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome

Coded as:
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 total
28 21 233 22 1 301

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FBN1 28 21 222 22 1 290
FBN1, LOC126862124 0 0 7 0 0 7
FBN1, LOC113939944 0 0 2 0 0 2
FBN1, LOC130057019 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 5
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 17 10 211 19 0 257
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 9 7 17 2 1 36
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 7 0 0 13
3billion, Medical Genetics 0 0 0 1 0 1
Suma Genomics 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.