ClinVar Miner

Variants studied for X-linked intellectual disability with marfanoid habitus

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 total
10 2 21 3 3 39

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MED12 3 1 16 2 0 22
UPF3B 7 1 5 1 3 17

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 5 0 0 0 0 5
Invitae 0 0 2 0 3 5
Baylor Genetics 1 0 3 0 0 4
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 2 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 2 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
GeneReviews 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 1 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 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.